The Application of Clinical Genetics最新文献

{"title":"Osteopontin Gene Polymorphisms rs1126616 C>T and rs1126772 A>G are Associated with Atopic Dermatitis in Polish Population.","authors":"Beata Kaleta,&nbsp;Mieszko Lachota,&nbsp;Jacek Łukaszkiewicz,&nbsp;Anna Woźniacka,&nbsp;Jarosław Bogaczewicz","doi":"10.2147/TACG.S323735","DOIUrl":"https://doi.org/10.2147/TACG.S323735","url":null,"abstract":"<p><strong>Purpose: </strong>Atopic dermatitis (AD) is a chronic, relapsing inflammatory disease, caused by environmental and genetic factors, which lead to immunological abnormalities. Osteopontin (OPN), also named secreted phosphoprotein 1 (SPP1), is a protein involved in the pathogenesis of numerous autoimmune and inflammatory conditions. However, its role in AD has not been fully elucidated. Therefore, we aim to gain an insight into the role of OPN in AD pathogenesis through investigating its gene single nucleotide polymorphisms (SNPs) and their possible associations with disease clinical features.</p><p><strong>Patients and methods: </strong>A total of 182 Caucasian participants (45 AD patients and 137 gender- and age-matched controls) were studied. Genomic DNA was isolated from peripheral blood samples. Genotyping for the rs1126616 C>T, rs1126772 A>G, rs9138 A>C, and rs3841116 T>G SNPs was performed by real time polymerase chain reaction (RT-PCR).</p><p><strong>Results: </strong>The frequency of the minor TT genotype and the T allele of rs1126616 C>T was higher in AD patients compared to controls (P = 0.019, OD = 4.86, 95% CI = 1.46-16.20, and P = 0.047, OR = 1.77, 95% CI = 1.04-3.00, respectively) and was associated with the higher prevalence of asthma (P = 0.017, OR = 3.73, 95% CI = 0.71-19.67, and P = 0.004, OR = 3.96, 95% CI = 1.53-10.25, respectively). Likewise, the minor GG genotype and the G allele of rs1126772 A>G were more frequent in AD patients (P = 0.026, OR = 3.27, 95% CI = 1.29-8.33, and P = 0.013, OR = 1.94, 95% CI = 1.18-3.21, respectively) and were associated with the increased incidence of asthma (P = 0.016, OR = 5.06, 95% CI = 1.14-22.49, and P = 0.002, OR = 4.40, 95% CI = 1.71-11.35, respectively). Furthermore, haplotype frequency estimation determined the four-loci haplotype TGCT, as a significant risk factor for AD compared to controls (P = 0.031, OR = 9.48, 95% CI = 1.23-71.91).</p><p><strong>Conclusion: </strong>Our results suggest that the variation in the <i>OPN</i> gene might be associated with AD and increased incidence of asthma in Caucasians. Further studies should be conducted to look into the possible role of OPN as a biomarker for AD.</p>","PeriodicalId":506374,"journal":{"name":"The Application of Clinical Genetics","volume":"14 ","pages":"417-425"},"PeriodicalIF":3.1,"publicationDate":"2021-10-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/b6/67/tacg-14-417.PMC8502056.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39538445","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Genetic Profile of the Dystrophin Gene Reveals New Mutations in Colombian Patients Affected with Muscular Dystrophinopathy.","authors":"Paula Triana-Fonseca,&nbsp;Juan Fernando Parada-Márquez,&nbsp;Claudia T Silva-Aldana,&nbsp;Daniela Zambrano-Arenas,&nbsp;Laura Lucia Arias-Gomez,&nbsp;Natalia Morales-Fonseca,&nbsp;Esteban Medina-Méndez,&nbsp;Carlos M Restrepo,&nbsp;Daniel Felipe Silgado-Guzmán,&nbsp;Dora Janeth Fonseca-Mendoza","doi":"10.2147/TACG.S317721","DOIUrl":"https://doi.org/10.2147/TACG.S317721","url":null,"abstract":"<p><strong>Background: </strong>Duchenne and Becker muscular dystrophies (DMD/BMD) are the most common human dystrophinopathies with recessive X-linked inheritance. Dystrophin gene deletions and duplications are the most common mutations, followed by point mutations. The aim of this study is to characterize the mutational profile of the dystrophin gene in Colombian patients with DMD/BMD.</p><p><strong>Material and methods: </strong>Mutational profiling was determined in 69 affected patients using Sanger sequencing, next-generation sequencing (NGS) and/or multiplex ligation dependent-probes amplification (MLPA). Genetic variants were classified according to molecular consequence and new variants were determined through database and literature analysis.</p><p><strong>Results: </strong>Mutational profile in affected patients revealed that large deletions/duplications analyzed by MLPA accounted for 72.5% of all genetic variations. By using Sanger sequencing or NGS, we identified point mutations in 15.9% and small deletions in 11.6% of the patients. New mutations were found, most of them were point mutations or small deletions (10.1%).</p><p><strong>Conclusion: </strong>Our results described the genetic profile of the dystrophin gene in Colombian patients with DMD and contribute to efforts to identify molecular variants in Latin American populations. For our population, 18.8% of cases could be treated with FDA or MDA approved molecular therapies based on specific mutations. These data contribute to the establishment of appropriate genetic counseling and potential treatment.</p>","PeriodicalId":506374,"journal":{"name":"The Application of Clinical Genetics","volume":"14 ","pages":"399-408"},"PeriodicalIF":3.1,"publicationDate":"2021-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/5a/96/tacg-14-399.PMC8493106.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39503553","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Phoniatric, Audiological, Orodental and Speech Problems in a Boy with Cardio-Facio-Cutaneous Syndrome Type 3 (CFC 3) Due to a Pathogenic Variant in <i>MAP2K1</i> - Case Study.","authors":"Bożena Kosztyła-Hojna,&nbsp;Jan Borys,&nbsp;Maciej Zdrojkowski,&nbsp;Emilia Duchnowska,&nbsp;Anna Kraszewska,&nbsp;Daria Wasilewska,&nbsp;Christiane Zweier,&nbsp;Alina Teresa Midro","doi":"10.2147/TACG.S316215","DOIUrl":"https://doi.org/10.2147/TACG.S316215","url":null,"abstract":"<p><p>Cardio-facio-cutaneous syndrome 3 (CFC3) due to variants in <i>MAP2K1</i> is a rare genetic disorder manifested mainly by short stature, facial dysmorphism, abnormalities of the cardiovascular system, skin changes, and intellectual disability. The aim of the study is the evaluation of the occurrence of pathological changes in the upper respiratory tract, orthodontic disorders, as well as voice, speech and hearing abnormalities in an 11-year-old boy with CFC3 syndrome. The lack of detailed diagnostics of speech, voice and hearing disorders, as well as the degree of their severity was an inspiration to undertake research in this field. Pathological changes in face, oral cavity, upper respiratory tract (nose, nasopharynx, larynx), and hearing organ, as well as voice and speech quality, were assessed in an 11-year-old boy with CFC3 syndrome. Pathologies of the upper respiratory tract (adenoid hypertrophy, narrowing of the nasal passages) and laryngeal asymmetry were found without significant changes in voice quality in the acoustic examination, except for the voice timbre change confirmed in narrowband spectrography. Complex audiological assessment confirmed the existence of bilateral sensorineural hearing loss. Speech pathology assessment revealed abnormalities in the structure of articulation organ, its decreased motor efficiency, imprecision, reduced coordination, as well as the presence of autistic features. Exome sequencing showed the heterozygous variant <i>c.371C>T (p.Pro124Leu)</i> in the <i>MAP2K1</i> gene, previously described as pathogenic, thus supporting a causative relevance. Phoniatric, audiological, orodental and speech problems should be considered as features of cardio-facio-cutaneous syndrome type 3 (CFC 3) phenotype due to a pathogenic variant in <i>MAP2K1</i>.</p>","PeriodicalId":506374,"journal":{"name":"The Application of Clinical Genetics","volume":"14 ","pages":"389-398"},"PeriodicalIF":3.1,"publicationDate":"2021-09-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/c3/ae/tacg-14-389.PMC8433288.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39416272","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Autoimmunity in Wiskott-Aldrich Syndrome: Updated Perspectives.","authors":"Murugan Sudhakar,&nbsp;Rashmi Rikhi,&nbsp;Sathish Kumar Loganathan,&nbsp;Deepti Suri,&nbsp;Surjit Singh","doi":"10.2147/TACG.S213920","DOIUrl":"https://doi.org/10.2147/TACG.S213920","url":null,"abstract":"<p><p>Wiskott-Aldrich syndrome (WAS) is an uncommon X-linked combined-immunodeficiency disorder characterized by a triad of thrombocytopenia, eczema, and immunodeficiency. Patients with WAS are also predisposed to autoimmunity and malignancy. Autoimmune manifestations have been reported in 26%-72% of patients with WAS. Autoimmunity is an independent predictor of poor prognosis and predisposes to malignancy. Development of autoimmunity is also an early pointer of the need for hematopoietic stem-cell transplantation. In this manuscript, we have collated the published data and present a narrative review on autoimmune manifestations in WAS. A summary of currently proposed immunopathogenic mechanisms and genetic variants associated with development of autoimmunity in WAS is also included.</p>","PeriodicalId":506374,"journal":{"name":"The Application of Clinical Genetics","volume":"14 ","pages":"363-388"},"PeriodicalIF":3.1,"publicationDate":"2021-08-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/72/c4/tacg-14-363.PMC8384432.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39356677","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Appropriate Clinical Genetic Testing of Hemochromatosis Type 2-4, Including Ferroportin Disease.","authors":"Devan S Kowdley,&nbsp;Kris V Kowdley","doi":"10.2147/TACG.S269622","DOIUrl":"https://doi.org/10.2147/TACG.S269622","url":null,"abstract":"<p><p>Hereditary hemochromatosis (HH) is an inherited iron overload disorder due to a deficiency of hepcidin, or a failure of hepcidin to degrade ferroportin. The most common form of HH, Type 1 HH, is most commonly due to a homozygous C282Y mutation in HFE and is relatively well understood in significance and action; however, other rare forms of HH (Types 2-4) exist and are more difficult to identify and diagnose in clinical practice. In this review, we describe the clinical characteristics of HH Type 2-4 and the mutation patterns that have been described in these conditions. We also review the different methods for genetic testing available in clinical practice and a pragmatic approach to the patient with suspected non-HFE HH.</p>","PeriodicalId":506374,"journal":{"name":"The Application of Clinical Genetics","volume":"14 ","pages":"353-361"},"PeriodicalIF":3.1,"publicationDate":"2021-08-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/a3/84/tacg-14-353.PMC8369226.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39329070","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"<i>ITPA:c.94C>A</i> and <i>NUDT15:c.415C>T</i> Polymorphisms and Their Relation to Mercaptopurine-Related Myelotoxicity in Childhood Leukemia in Thailand.","authors":"Boonchai Boonyawat,&nbsp;Chalinee Monsereenusorn,&nbsp;Apichat Photia,&nbsp;Nawachai Lertvivatpong,&nbsp;Varissara Kaewchaivijit,&nbsp;Punyanuch Jindatanmanusan,&nbsp;Piya Rujkijyanont","doi":"10.2147/TACG.S318912","DOIUrl":"https://doi.org/10.2147/TACG.S318912","url":null,"abstract":"<p><strong>Background: </strong>Mercaptopurine is a key agent in childhood leukemia treatment. Genetic polymorphism in the genes involving thiopurine metabolisms is related to 6-MP related toxicity.</p><p><strong>Objective: </strong>This study aimed to determine the prevalence of <i>ITPA:c.94C>A</i> and <i>NUDT15:c.415C>T</i> polymorphisms among Thai children diagnosed with leukemia and their association with mercaptopurine-related myelotoxicity.</p><p><strong>Methods: </strong>Patients and survivors with a diagnosis of leukemia treated with mercaptopurine-containing chemotherapy regimens were enrolled. Clinical data and laboratory parameters during treatment as well as <i>ITPA:c.94C>A</i> and <i>NUDT15:c.415C>T</i> genotypes were analyzed.</p><p><strong>Results: </strong>In all, 99 patients with acute leukemia or survivors were enrolled in the study. The prevalences of <i>ITPA:c.94C>A</i>, <i>NUDT15:c.415C>T</i>, and co-occurrence of <i>ITPA:c.94C>A</i> and <i>NUDT15:c.415C>T</i> polymorphisms were 34, 17, and 4%, respectively. Numbers of absolute neutrophil count (ANC) and platelet count significantly decreased among patients carrying <i>NUDT15:c.415C>T</i> compared with <i>NUDT15</i> wild type patients with <i>p</i>-values<0.001 and 0.019, respectively. The differences were not observed among patients carrying <i>ITPA:c.94C>A</i> compared with <i>ITPA</i> wild type patients. According to multivariate GEE, <i>NUDT15:c.415C>T</i> and co-occurrence of <i>ITPA:c.94C>A</i> and <i>NUDT15:c.415C>T</i> had a significant negative effect on ANC during treatment (coefficient: -463.81; CI: -778.53, -149.09; <i>p</i>-value=0.004 and coefficient: -527.56; CI: -1045.65, -9.48; <i>p</i>-value=0.046). No significant effect of <i>ITPA:c.94C>A</i> on ANC during treatment was observed.</p><p><strong>Conclusion: </strong><i>ITPA:c.94C>A</i> and <i>NUDT15:c.415C>T</i> polymorphisms are common among Thai children with leukemia. A strong association with mercaptopurine-related myelotoxicity was observed among patients carrying either <i>NUDT15:c.415C>T</i> alone or combined with <i>ITPA:c.94C>A</i>.</p>","PeriodicalId":506374,"journal":{"name":"The Application of Clinical Genetics","volume":"14 ","pages":"341-351"},"PeriodicalIF":3.1,"publicationDate":"2021-07-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/dd/60/tacg-14-341.PMC8326781.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39276246","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Successful Pregnancy Following Preimplantation Genetic Diagnosis of Adrenoleukodystrophy by Detection of Mutation on the <i>ABCD1</i> Gene.","authors":"Son Trinh The,&nbsp;Sang Trieu Tien,&nbsp;Tam Vu Van,&nbsp;Nhat Nguyen Ngoc,&nbsp;My Tran Ngoc Thao,&nbsp;Khoa Tran Van,&nbsp;Dinh Vu Nhat,&nbsp;Binh Do Nhu","doi":"10.2147/TACG.S318884","DOIUrl":"https://doi.org/10.2147/TACG.S318884","url":null,"abstract":"<p><strong>Background: </strong>Adrenoleukodystrophy (ALD) is a rare sex-linked recessive disorder that disrupts adrenal gland function and the white matter of the nervous system. According to recent epidemiological statistics, up to this moment, the disease is the most recorded peroxisomal disorder. <i>ABCD1</i> is a gene related to ALD, with more than 850 unique mutations have been reported. Early diagnosis of the disease would help to consult families with ALD to plan for interventions to prevent passing along the pathogenic mutations to their children.</p><p><strong>Material and methods: </strong>A heterozygous <i>ABCD1</i> gene mutation related to ALD found in a Vietnamese woman was used to design primers for the polymerase chain reaction (PCR) to amplify the segment spanning the mutation. Then, combining sequencing methods for the PCR products, especially Sanger sequencing and next-generation sequencing (NGS), a protocol was developed to detect mutations on the <i>ABCD1</i> gene to apply for the DNA samples of in-vitro fertilization (IVF) embryos biopsied at the blastocyst stage to screen for pathogenic alleles.</p><p><strong>Results: </strong>The established protocol for PGD of ALD detected mutant alleles in 5/8 embryos (62.5%), while the remaining 3 embryos (37.5%) did not carry any mutation. One of the 3 embryos was transferred, and a healthy female baby was born after a full-term pregnancy.</p><p><strong>Conclusion: </strong>The developed protocol was helpful for the preimplantation genetic diagnosis process to help families with the monogenic disease of ALD but wish to have healthy children.</p>","PeriodicalId":506374,"journal":{"name":"The Application of Clinical Genetics","volume":"14 ","pages":"313-319"},"PeriodicalIF":3.1,"publicationDate":"2021-07-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/a9/55/tacg-14-313.PMC8286725.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39202762","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"NAT2 Gene rs1041983 is Associated with Anti-Tuberculosis Drug Induced Hepatotoxicity Among Pediatric Tuberculosis in Bandung, Indonesia.","authors":"Achmad Headriawan,&nbsp;Alvinsyah Adhityo Pramono,&nbsp;Abdurachman Sukadi,&nbsp;Alex Chairulfatah,&nbsp;Ani Melani Maskoen,&nbsp;Heda Melinda Nataprawira","doi":"10.2147/TACG.S303668","DOIUrl":"https://doi.org/10.2147/TACG.S303668","url":null,"abstract":"<p><strong>Background: </strong>As pediatric tuberculosis (TB) globally is still reported challenging in diagnosis, to date, a lot of efforts have been established to eliminate the disease including proper treatment regimen using anti-TB drugs. However, antituberculosis drug-induced hepatotoxicity (ADIH) is known to interfere the success of the prescribed therapy. ADIH was found to be correlated with polymorphisms of NAT2 gene, that is responsible to transcript the NAT2 enzyme, a metabolizer of isoniazid (INH). The most common NAT2 gene polymorphisms in Asian population associated with ADIH are rs1041983, rs1799929, rs1799930 and rs1799931. The study aimed to investigate the 4 single nucleotide polymorphisms (SNPs) in pediatric TB that experienced ADIH.</p><p><strong>Methods: </strong>We conducted a case-control study comparing 31 each of pediatric TB experience with and without ADIH. All pediatric TB was selected from 451 pediatric TB Registry of Respirology Division, Department of Child Health Faculty of Medicine Universitas Padjadjaran/Dr Hasan Sadikin Hospital during January 2016 to July 2018. Genomic DNA PCR and sequencing to identify polymorphisms of rs1041983, rs1799929, rs1799930 and rs1799931 were performed in both groups. Data analysis was performed using the Epi info Ver. 7 software.</p><p><strong>Results: </strong>Thirty-one pediatric TB experiences with and without ADIH were enrolled in this study. SNP rs1041983 significantly affected the occurrence of ADIH (OR 2.39, CI 95% (1.15-4.96), p=0.019). The rs1799929, rs1799930 and rs1799931 did not significantly affect the occurrence of ADIH (p=0.133, p=0.150 and p=0.659, respectively).</p><p><strong>Conclusion: </strong>Polymorphism SNP rs1041983 had association with the occurrence of ADIH.</p>","PeriodicalId":506374,"journal":{"name":"The Application of Clinical Genetics","volume":"14 ","pages":"297-303"},"PeriodicalIF":3.1,"publicationDate":"2021-06-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/2d/7a/tacg-14-297.PMC8184287.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39002294","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Mutations Involved in Premature-Ageing Syndromes.","authors":"Fabio Coppedè","doi":"10.2147/TACG.S273525","DOIUrl":"https://doi.org/10.2147/TACG.S273525","url":null,"abstract":"<p><p>Premature-ageing syndromes are a heterogeneous group of rare genetic disorders resembling features of accelerated ageing and resulting from mutations in genes coding for proteins required for nuclear lamina architecture, DNA repair and maintenance of genome stability, mitochondrial function and other cellular processes. Hutchinson-Gilford progeria syndrome (HGPS) and Werner syndrome (WS) are two of the best-characterized progeroid syndromes referred to as childhood- and adulthood-progeria, respectively. This article provides an updated overview of the mutations leading to HGPS, WS, and to the spectrum of premature-ageing laminopathies ranging in severity from congenital restrictive dermopathy (RD) to adult-onset atypical WS, including RD-like laminopathies, typical and atypical HGPS, more and less severe forms of mandibuloacral dysplasia (MAD), Néstor-Guillermo progeria syndrome (NGPS), atypical WS, and atypical progeroid syndromes resembling features of HGPS and/or MAD but resulting from impaired DNA repair or mitochondrial functions, including mandibular hypoplasia, deafness, progeroid features, and lipodystrophy (MDPL) syndrome and mandibuloacral dysplasia associated to <i>MTX2</i> (MADaM). The overlapping signs and symptoms among different premature-ageing syndromes, resulting from both a large genetic heterogeneity and shared pathological pathways underlying these conditions, require an expert clinical evaluation in specialized centers paralleled by next-generation sequencing of panels of genes involved in these disorders in order to establish as early as possible an accurate clinical and molecular diagnosis for a proper patient management.</p>","PeriodicalId":506374,"journal":{"name":"The Application of Clinical Genetics","volume":"14 ","pages":"279-295"},"PeriodicalIF":3.1,"publicationDate":"2021-06-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/53/d5/tacg-14-279.PMC8180271.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39092446","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The Oral Health of Patients with DiGeorge Syndrome (22q11) Microdeletion: A Case Report.","authors":"Estephania Candelo,&nbsp;Maria Alejandra Estrada-Mesa,&nbsp;Adriana Jaramillo,&nbsp;Carlos Humberto Martinez-Cajas,&nbsp;Julio Cesar Osorio,&nbsp;Harry Pachajoa","doi":"10.2147/TACG.S280066","DOIUrl":"https://doi.org/10.2147/TACG.S280066","url":null,"abstract":"<p><strong>Background: </strong>DiGeorge syndrome (DG) is a genetic disorder associated with 22q11 deletion. It involves various phenotypes, including craniofacial abnormalities, congenital heart disorders, endocrine dysfunction, cognitive deficits, and psychiatric disorders. Cases commonly involve multiple anomalies. However, little is known about the condition of the oral cavity in this disorder, although palate fissure, abnormal mandible, malocclusion, and tooth hypoplasia have been identified. We aimed to determine the odontological features of patients with 22q11.2 microdeletion, in relation to gingival health and oral hygiene. We report the systemic manifestations of nine patients and results of oral evaluation of two patients. In the oral examination, oral hygiene and gingivitis were evaluated.</p><p><strong>Case presentation: </strong>In terms of the systemic manifestations, we found high frequencies of low weight and height at birth. In terms of the oral manifestations, both examined patients presented malocclusion, enamel hypoplasia, dental crowding, anodontia, and healthy periodontium.</p><p><strong>Conclusion: </strong>Although DG has been documented to involve periodontium disease, the patients in this study exhibited more dental manifestations such as enamel defects, misalignment between the teeth and the two dental arches, anodontia, and dental crowding. As such, a multidisciplinary approach combining dentistry and healthcare is recommended in this case.</p>","PeriodicalId":506374,"journal":{"name":"The Application of Clinical Genetics","volume":"14 ","pages":"267-277"},"PeriodicalIF":3.1,"publicationDate":"2021-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/23/b0/tacg-14-267.PMC8179788.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39092014","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}