Balkan Journal of Medical Genetics最新文献_第6页

Having Multiple Renal Cysts in a Young Adult is not Always a Sign of Polycystic Kidney Disease. 在一个年轻的成年人有多个肾囊肿并不总是多囊肾病的征兆。

IF 0.6 4区医学

Balkan Journal of Medical Genetics Pub Date : 2022-06-05 eCollection Date: 2021-11-01 DOI: 10.2478/bjmg-2021-0016

K Kaynar, S Kayıpmaz, A H Çebi, Ş Hüseynova

{"title":"Having Multiple Renal Cysts in a Young Adult is not Always a Sign of Polycystic Kidney Disease.","authors":"K Kaynar, S Kayıpmaz, A H Çebi, Ş Hüseynova","doi":"10.2478/bjmg-2021-0016","DOIUrl":"https://doi.org/10.2478/bjmg-2021-0016","url":null,"abstract":"Multiple renal cysts in adult patients could have asymptomatic, benign and a nonprogressive course. However, these cysts could be renal features of a very rare hereditary, progressive syndrome defined as cranioectodermal dysplasia (CED or Sensenbrenner syndrome). Affected patients show dysmorphic features such as craniosynostosis, nail dystrophy, cutaneous dyshydrosis, dry or scaly palmar skin, trichodysplasia, deafness, pectus excavatum, telecanthus, hypertelorism, low set ears, everted lower lip, anteverted nares, short neck and height, joint laxity, inguinal hernia, widely spaced teeth, microdontia, hypodontia in addition to nephronophthisis. We report a 22-year-old male hypertensive patient with multiple renal cysts and dental malformations listed as malocclusion, screwdriver shaped crowns, widely spaced front teeth, microdontia and hyperdontia. Molecular analysis reported missense p.(Ala875Thr) and p.(Lys969Asn) variants in the WDR35 gene. The 1-year follow-up of this case provided the knowledge that angiotensin II receptor blocker drug (olmesartan) reduced the microalbuminuria to normal levels and preserved the renal functions. We suggest interdisciplinary studies, especially intraoral and genetic evaluations for patients with cystic renal diseases. For the first time we report that hyperdontia could be found as a dental feature of CED.","PeriodicalId":55403,"journal":{"name":"Balkan Journal of Medical Genetics","volume":null,"pages":null},"PeriodicalIF":0.6,"publicationDate":"2022-06-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/a4/5e/bjmg-24-083.PMC9524178.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"33516368","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Single-Nucleotide Polymorphisms in Exonic and Promoter Regions of Transcription Factors of Second Heart Field Associated with Sporadic Congenital Cardiac Anomalies. 与散发性先天性心脏异常相关的第二心脏区转录因子外显子和启动子区的单核苷酸多态性。

IF 0.6 4区医学

Balkan Journal of Medical Genetics Pub Date : 2022-06-05 eCollection Date: 2021-11-01 DOI: 10.2478/bjmg-2021-0028

E Wang, X Fan, Y Nie, Z Zheng, S Hu

{"title":"Single-Nucleotide Polymorphisms in Exonic and Promoter Regions of Transcription Factors of Second Heart Field Associated with Sporadic Congenital Cardiac Anomalies.","authors":"E Wang, X Fan, Y Nie, Z Zheng, S Hu","doi":"10.2478/bjmg-2021-0028","DOIUrl":"https://doi.org/10.2478/bjmg-2021-0028","url":null,"abstract":"Multiple second heart field (SHF) transcription factors are involved in cardiac development. In this article we evaluate the relationship between SHF transcription factor polymorphisms and congenital heart disease (CHD). Ten polymorphisms were used for genotyping, and three of these were used for the luciferase assay. The risk of CHD was increased 4.31 times and 1.54 times in the C allele of GATA5: rs6061243 G>C and G allele of TBX20: rs336283 A>G, respectively. The minor alleles of SMYD1: rs1542088 T>G, MEF2C: rs80043958 A>G and GATA5: rs6587239 T>C increased the risk of the simple types of CHD. The minor alleles of GATA5: rs41305803 G>A and MEF2C: rs304154 A>G increased the risk of tetralogy of Fallot (TOF). The minor alleles of TBX20: rs336284 A>G and SMYD1: rs88387557 T>G only increased the risk of a single ventricle (SV). Luciferase assays revealed that the minor alleles of rs304154 and rs336284 decreased the transcriptional levels of MEF2C and TBX20, respectively (p<0.01). When combined with HLTF, the G promoter showed a higher expression level than the A promoter in rs80043958 (p<0.01). Our findings suggest that minor alleles of SNPs in the exonic and promoter regions of transcription factors in the SHF can increase the risks of sporadic CHD.","PeriodicalId":55403,"journal":{"name":"Balkan Journal of Medical Genetics","volume":null,"pages":null},"PeriodicalIF":0.6,"publicationDate":"2022-06-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/7e/c7/bjmg-24-039.PMC9524169.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"33517933","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Novel GPC3 Gene Mutation in Simpson-Golabi-Behmel Syndrome with Endocrine Anomalies: A Case Report. 辛普森-戈拉比-贝梅尔综合征伴内分泌异常的新型GPC3基因突变1例报告。

IF 0.6 4区医学

Balkan Journal of Medical Genetics Pub Date : 2022-06-05 eCollection Date: 2021-11-01 DOI: 10.2478/bjmg-2021-0024

W Bu, M Zhu, S Li, H Liu, X Liu

{"title":"Novel GPC3 Gene Mutation in Simpson-Golabi-Behmel Syndrome with Endocrine Anomalies: A Case Report.","authors":"W Bu, M Zhu, S Li, H Liu, X Liu","doi":"10.2478/bjmg-2021-0024","DOIUrl":"https://doi.org/10.2478/bjmg-2021-0024","url":null,"abstract":"Abstract Simpson-Golabi-Behmel syndrome (SGBS) represents a rare X-linked recessive syndrome with prenatal and postnatal overgrowth, coarse facial features, congenital malformations, organomegaly and an increased risk of tumors. Mutations on the GPC3 gene, encoding the glypican-3 protein, have previously been shown to cause the disease. In this report, a 12-year-old Chinese boy was hospitalized in our institution for some clinical features of SGBS. His serum endocrine evaluation showed hormone level abnormalities, including high prolactin, high testosterone, high thyroid-stimulating hormone (TSH) levels, and low estradiol levels. Whole exome sequencing (WES) was performed in the patient for mutation analysis and a novel hemizygous mutation, c.185delT, p.(Leu62Cysfs*22), on the GPC3 gene, was identified. The mother was a heterozygous carrier. The SGBS patients might present with endocrine anomalies, which adds to the clinical heterogeneity of the disease. The novel GPC3 mutation c.185delT expands the mutational spectrum of the GPC3 gene.","PeriodicalId":55403,"journal":{"name":"Balkan Journal of Medical Genetics","volume":null,"pages":null},"PeriodicalIF":0.6,"publicationDate":"2022-06-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/7a/40/bjmg-24-095.PMC9524176.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"33518499","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 1

Case Report for Two Siblings Carrying Neurofibromatosis Type 1 with a Rare NF1: c.5392C>T Mutation. 2例兄弟姐妹携带1型神经纤维瘤病伴罕见NF1: c.5392C>T突变

IF 0.6 4区医学

Balkan Journal of Medical Genetics Pub Date : 2022-06-05 eCollection Date: 2021-11-01 DOI: 10.2478/bjmg-2021-0021

D B Sayın Kocakap, Ö Gündüz, L Özer, M Durak

{"title":"Case Report for Two Siblings Carrying Neurofibromatosis Type 1 with a Rare NF1: c.5392C>T Mutation.","authors":"D B Sayın Kocakap, Ö Gündüz, L Özer, M Durak","doi":"10.2478/bjmg-2021-0021","DOIUrl":"https://doi.org/10.2478/bjmg-2021-0021","url":null,"abstract":"Neurofibromatosis type 1 (NF1) is a neurocutaneous syndrome caused by mutations on the NF1 gene, which is located at chromosome 17q11.2. Although an autosomal dominant inheritance pattern is well-established, about half of new cases are the result of de novo NF1 mutations. Neurofibromatosis type 1 has an incidence rate of 1/2600-3000 individuals, making it a major public health problem. The product of the NF1 gene, the neurofibromin protein, is known to play a critical role in cellular differentiation and in tumor suppression. Due to widespread expression of neurofibromin in numerous tissues, particularly in cutaneous and nervous systems, NF1 mutations cause a wide variety of clinical symptoms, including cutaneous and ocular lesions such as café au lait spots, axillary and inguinal freckling, multiple cutaneous neurofibromas, iris Lisch nodules, choroidal freckling and internal tumors. In this article, we report the cases of two siblings with NF1, a 21-year-old male and his 24-year-old sister, who have the same c.5392C>T mutation on the NF1 gene (p.Gln1798 Ter). Café au lait macules and freckling were the prominent clinical features in both siblings. However, a plexiform neurofibroma was also observed on the left arm of the sister, which is known to carry potential risk for malignant transformation. Although the mutation was previously described once, to the best of our knowledge, no case report has been published since then.","PeriodicalId":55403,"journal":{"name":"Balkan Journal of Medical Genetics","volume":null,"pages":null},"PeriodicalIF":0.6,"publicationDate":"2022-06-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/54/5a/bjmg-24-099.PMC9524177.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"33516369","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Phenotypic Variability of 17q12 Microdeletion Syndrome - Three Cases and Review of Literature. 17q12微缺失综合征的表型变异——3例及文献复习。

IF 0.6 4区医学

Balkan Journal of Medical Genetics Pub Date : 2022-06-05 eCollection Date: 2021-11-01 DOI: 10.2478/bjmg-2021-0025

A Țuțulan-Cuniță, A G Pavel, L Dimos, M Nedelea, A Ursuleanu, A T Neacșu, M Budișteanu, D Stambouli

引用次数: 1

Array-Based Comparative Genomic Hybridization Analysis in Children with Developmental Delay/Intellectual Disability. 发育迟缓/智力残疾儿童的阵列比较基因组杂交分析。

IF 0.6 4区医学

Balkan Journal of Medical Genetics Pub Date : 2022-06-05 eCollection Date: 2021-11-01 DOI: 10.2478/bjmg-2021-0020

A Türkyılmaz, B B Geckinli, E Tekin, E A Ates, O Yarali, A H Cebi, A Arman

{"title":"Array-Based Comparative Genomic Hybridization Analysis in Children with Developmental Delay/Intellectual Disability.","authors":"A Türkyılmaz, B B Geckinli, E Tekin, E A Ates, O Yarali, A H Cebi, A Arman","doi":"10.2478/bjmg-2021-0020","DOIUrl":"https://doi.org/10.2478/bjmg-2021-0020","url":null,"abstract":"Developmental delay (DD) is a condition wherein developmental milestones and learning skills do not occur at the expected age range for patients under 5 years of age. Intellectual disability (ID) is characterized by limited or insufficient development of mental abilities, including intellectual functioning impairments, such as learning and cause-effect relationships. Isolated and syndromic DD/ID cases show extreme genetic heterogeneity. Array-based comparative genomic hybridization aCGH) can detect copy number variations (CNVs) on the whole genome at higher resolution than conventional cytogenetic methods. The diagnostic yield of aCGH was 15.0-20.0% in DD/ID cases. The aim of this study was to discuss the clinical findings and aCGH analysis results of isolated and syndromic DD/ID cases in the context of genotype-phenotype correlation. The study included 139 cases (77 females, 62 males). Data analysis revealed 38 different CNVs in 35 cases. In this study, 19 cases with pathogenic CNVs (13.6%) and five cases with likely pathogenic CNVs (3.5%) were found in a total of 139 cases diagnosed with DD/ID. When all pathogenic and likely pathogenic cases were evaluated, the diagnosis rate was 17.1%. The use of aCGH analysis as a first-tier test in DD/ID cases contributes significantly to the diagnosis rates and enables the detection of rare microdeletion/microduplication syndromes. The clear determination of genetic etiology contributes to the literature in terms of genotype-phenotype correlation.","PeriodicalId":55403,"journal":{"name":"Balkan Journal of Medical Genetics","volume":null,"pages":null},"PeriodicalIF":0.6,"publicationDate":"2022-06-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/79/d9/bjmg-24-015.PMC9524173.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"33518498","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 2

Clinical Experience of Neurological Mitochondrial Diseases in Children and Adults: A Single-Center Study. 儿童和成人神经线粒体疾病的临床经验:一项单中心研究

IF 0.6 4区医学

Balkan Journal of Medical Genetics Pub Date : 2022-06-05 eCollection Date: 2021-11-01 DOI: 10.2478/bjmg-2021-0019

M Rogac, D Neubauer, L Leonardis, N Pecaric, M Meznaric, A Maver, W Sperl, B M Garavaglia, E Lamantea, B Peterlin

{"title":"Clinical Experience of Neurological Mitochondrial Diseases in Children and Adults: A Single-Center Study.","authors":"M Rogac, D Neubauer, L Leonardis, N Pecaric, M Meznaric, A Maver, W Sperl, B M Garavaglia, E Lamantea, B Peterlin","doi":"10.2478/bjmg-2021-0019","DOIUrl":"https://doi.org/10.2478/bjmg-2021-0019","url":null,"abstract":"The goal of the study was to retrospectively evaluate a cohort of children and adults with mitochondrial diseases (MDs) in a single-center experience. Neurological clinical examination, brain magnetic resonance imaging (MRI) and spectroscopy, muscle biopsy, metabolic and molecular-genetic analysis were evaluated in 26 children and 36 adult patients with MD in Slovenia from 2004 to 2018. Nijmegen MD criteria (MDC) were applied to all patients and the need for a muscle biopsy was estimated. Exome-sequencing was used in half of the patients. Twenty children (77.0%) and 12 adults (35.0%) scored a total of ≥8 on MDC, a result that is compatible with the diagnosis of definite MD. Yield of exome-sequencing was 7/22 (31.0%), but the method was not applied systematically in all patients from the beginning of diagnostics. Brain MRI morphological changes, which can be an imaging clue for the diagnosis of MD, were found in 17/24 children (71.0%). In 7/26 (29.0%) children, and in 20/30 (67.0%) adults, abnormal mitochondria were found on electron microscopy (EM) and ragged-red fibers were found in 16/30 (53.0%) adults. Respiratory chain enzymes (RCEs) and/or pyruvate dehydrogenase complex (PDHc) activities were abnormal in all the children and six adult cases. First, our data revealed that MDC was useful in the clinical diagnosis of MD, and second, until the use of NGS methods, extensive, laborious and invasive diagnostic procedures were performed to reach a final diagnosis. In patients with suspected MD, there is a need to prioritize molecular diagnosis with the more modern next-generation sequencing (NGS) method.","PeriodicalId":55403,"journal":{"name":"Balkan Journal of Medical Genetics","volume":null,"pages":null},"PeriodicalIF":0.6,"publicationDate":"2022-06-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/8b/af/bjmg-24-005.PMC9524181.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"33517934","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Association of Relative Telomere Length and Risk of High Human Papillomavirus Load in Cervical Epithelial Cells. 宫颈上皮细胞中相对端粒长度与人乳头瘤病毒高载量风险的关系

IF 0.6 4区医学

Balkan Journal of Medical Genetics Pub Date : 2022-06-05 eCollection Date: 2021-11-01 DOI: 10.2478/bjmg-2021-0026

A H Albosale, E V Mashkina

引用次数: 0

Risk Factors of Venous Thromboembolism in Sudanese Pregnant Women. 苏丹孕妇静脉血栓栓塞的危险因素。

IF 0.6 4区医学

Balkan Journal of Medical Genetics Pub Date : 2022-06-05 eCollection Date: 2021-11-01 DOI: 10.2478/bjmg-2021-0018

E K Abdalhabib, A Alfeel, E I Ali, I K Ibrahim, A A Mobarki, G Dobie, H A Hamali, M Saboor

{"title":"Risk Factors of Venous Thromboembolism in Sudanese Pregnant Women.","authors":"E K Abdalhabib, A Alfeel, E I Ali, I K Ibrahim, A A Mobarki, G Dobie, H A Hamali, M Saboor","doi":"10.2478/bjmg-2021-0018","DOIUrl":"https://doi.org/10.2478/bjmg-2021-0018","url":null,"abstract":"Venous thromboembolism (VTE) is one of the major causes of pregnancy-related mortality and morbidity. This study aimed to determine the frequency of factor V Leiden (FVL) and prothrombin G20210A polymorphisms and measure the plasma levels of protein C (PC), protein S (PS) and antithrombin (AT) in pregnant women with VTE and healthy pregnant women. This prospective case-control study determined the frequencies of FVL G1691A and prothrombin G20210A polymorphisms and measured the plasma levels of PC, PS and AT in 198 pregnant women with VTE and 198 healthy pregnant women. Allele-specific polymerase chain reaction (ASPCR) was used to detect the FVL G1691A polymorphisms and prothrombin G20210A gene mutations. The FVL G1691A polymorphism and prothrombin G20210A gene mutations were detected only in pregnant women with VTE, with frequencies of 4.0 and 0.5%, respectively. The highest frequency of FVL G1691A polymorphism was observed in patients with deep vein thrombosis (DVT) and positively associated with contraceptive use and termination. Pregnant women with VTE had significantly lower levels of PC, PS and AT than those of controls. In conclusion, among the VTE cases, FVL G1691A polymorphism and PC, PS and AT deficiencies were the most common findings in patients presenting with DVT. Antithrombin deficiency was more common than PC and PS deficiencies. Contraceptive use, high body mass index (BMI) and termination correlated strongly with FVL G1691A polymorphism and PC and PS deficiencies in patients with VTE.","PeriodicalId":55403,"journal":{"name":"Balkan Journal of Medical Genetics","volume":null,"pages":null},"PeriodicalIF":0.6,"publicationDate":"2022-06-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/92/0c/bjmg-24-049.PMC9524171.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"33518374","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 1

48,XYYY: A Rare Case Report. 48、XYYY:一份罕见病例报告。

IF 0.6 4区医学

Balkan Journal of Medical Genetics Pub Date : 2022-06-05 eCollection Date: 2021-11-01 DOI: 10.2478/bjmg-2021-0029

A S Sabnis, D Bhusare

引用次数: 0