The Application of Clinical Genetics最新文献

{"title":"Genetic Factors Underlying Sudden Infant Death Syndrome.","authors":"Christine Keywan,&nbsp;Annapurna H Poduri,&nbsp;Richard D Goldstein,&nbsp;Ingrid A Holm","doi":"10.2147/TACG.S239478","DOIUrl":"https://doi.org/10.2147/TACG.S239478","url":null,"abstract":"<p><p>Sudden Infant Death syndrome (SIDS) is a diagnosis of exclusion. Decades of research have made steady gains in understanding plausible mechanisms of terminal events. Current evidence suggests SIDS includes heterogeneous biological conditions, such as metabolic, cardiac, neurologic, respiratory, and infectious conditions. Here we review genetic studies that address each of these areas in SIDS cases and cohorts, providing a broad view of the genetic underpinnings of this devastating phenomenon. The current literature has established a role for monogenic genetic causes of SIDS mortality in a subset of cases. To expand upon our current knowledge of disease-causing genetic variants in SIDS cohorts and their mechanisms, future genetic studies may employ functional assessments of implicated variants, broader genetic tests, and the inclusion of parental genetic data and family history information.</p>","PeriodicalId":506374,"journal":{"name":"The Application of Clinical Genetics","volume":"14 ","pages":"61-76"},"PeriodicalIF":3.1,"publicationDate":"2021-02-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/35/0b/tacg-14-61.PMC7894824.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"25398355","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":"Y-Chromosome Microdeletions: A Review of Prevalence, Screening, and Clinical Considerations.","authors":"Matthew J Rabinowitz,&nbsp;Phillip J Huffman,&nbsp;Nora M Haney,&nbsp;Taylor P Kohn","doi":"10.2147/TACG.S267421","DOIUrl":"https://doi.org/10.2147/TACG.S267421","url":null,"abstract":"<p><p>Deletions within the male-specific region of the Y-chromosome, known as Y-Chromosome Microdeletions (YCMs), are present in as many as 5% and 10% of severe oligospermic and azoospermic men, respectively. These microdeletions are distinguished by which segment of the Y chromosome is absent, identified as AZFa (the most proximal segment), AZFb (middle), and AZFc (distal). The reported prevalence of YCMs within the world's populations of infertile men displays vast heterogeneity, ranging from less than 2% to over 24% based on region and ethnicity. AZFc is the most commonly identified YCM, and its phenotypic presentation provides for the highest chance for fertility through artificial reproductive techniques. Conversely, deletions identified in the subregions of AZFa, AZFb, or any combination of regions containing these segments, are associated with low probabilities of achieving pregnancy. A putative mechanism explaining this discrepancy lies within the expression of autosomal, DAZ-like genes which could serve to \"rescue\" wild type AZFc gene expression and hence spermatogenesis. Nevertheless, recent reports challenge this dogma and stress the importance of further analysis when an AZFb deletion is detected. The screening thresholds to determine which oligospermic and azoospermic men are tested for potential YCMs has been recently contested. More recent literature supports lowering the threshold from 5 million sperm/mL of ejaculate to 1 million/mL as the frequency of YCMs in men with sperm concentrations between 1 and 5 million sperm/mL is very low (~0.8%). As such, subsequent guidelines should recommend a lower screening threshold. While YCMs are extremely common globally, the understanding of their clinical significance in the field remains scattered and without consensus. Furthermore, very little is currently known about partial deletions within the AZFc region, such as b1/b3, b2/b3, and gr/gr. Hence, this review aimed to summarize and discuss modern trends in the epidemiology, screening guidelines, and clinical considerations pertaining to YCMs.</p>","PeriodicalId":506374,"journal":{"name":"The Application of Clinical Genetics","volume":"14 ","pages":"51-59"},"PeriodicalIF":3.1,"publicationDate":"2021-02-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/c6/7f/tacg-14-51.PMC7886244.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"25382844","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 Gluten Gene: Unlocking the Understanding of Gluten Sensitivity and Intolerance.","authors":"Nastaran Asri,&nbsp;Mohammad Rostami-Nejad,&nbsp;Robert P Anderson,&nbsp;Kamran Rostami","doi":"10.2147/TACG.S276596","DOIUrl":"https://doi.org/10.2147/TACG.S276596","url":null,"abstract":"<p><p>Wheat flour is one of the most important food ingredients containing several essential nutrients including proteins. Gluten is one of the major protein components of wheat consisted of glutenin (encoded on chromosome 1) and gliadin (encoded on chromosome 1 and 6) and there are around hundred genes encoding it in wheat. Gluten proteins have the ability of eliciting the pathogenic immune responses and hypersensitivity reactions in susceptible individuals called \"gluten-related disorders (GRDs)\", which include celiac disease (CD), wheat allergy (WA), and non-celiac gluten sensitivity (NCGS). Currently removing gluten from the diet is the only effective treatment for mentioned GRDs and studies for the appropriate and alternative therapeutic approaches are ongoing. Accordingly, several genetic studies have focused on breeding wheat with low immunological properties through gene editing methods. The present review considers genetic characteristics of gluten protein components, focusing on their role in the incidence of gluten-related diseases, and genetic modifications conducted to produce wheat with less immunological properties.</p>","PeriodicalId":506374,"journal":{"name":"The Application of Clinical Genetics","volume":"14 ","pages":"37-50"},"PeriodicalIF":3.1,"publicationDate":"2021-02-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/72/39/tacg-14-37.PMC7886246.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"25382845","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":"A Novel Allele-Specific PCR Protocol for the Detection of the <i>HLA-C*03:02</i> Allele, a Pharmacogenetic Marker, in Vietnamese Kinh People.","authors":"Tran Thu Ha Pham,&nbsp;Quang Binh Tran,&nbsp;Chonlaphat Sukasem,&nbsp;Van Dinh Nguyen,&nbsp;Chi Hieu Chu,&nbsp;Thi Quynh Nga Do,&nbsp;Ngoc Phuong Mai Tran,&nbsp;Thanh Huong Phung","doi":"10.2147/TACG.S278652","DOIUrl":"https://doi.org/10.2147/TACG.S278652","url":null,"abstract":"<p><strong>Background: </strong>Allopurinol, a common anti-hyperuricemia drug, is well known as an inducer of severe cutaneous adverse drug reactions (SCARs). One of the most well-defined risk factors of allopurinol-induced SCARs is the presence of polymorphic alleles of human leukocyte antigen (<i>HLA</i>) genes, such as <i>HLA-B*58:01</i> and <i>HLA-C*03:02</i> alleles. There is no commercial test or published in-house protocol for the specific detection of the <i>HLA-C*03:02</i> allele. In this article, we established for the first time a simple allele-specific (AS) PCR method to identify <i>HLA-C*03:02</i> allele carriers, and at the same time, determine their zygosities.</p><p><strong>Methods: </strong>A two-step AS-PCR protocol, using four primer sets, was designed to specifically amplify and differentiate the <i>HLA-C*03:02</i> allele from 17 other <i>HLA-C</i> alleles found in Vietnamese people. The protocol was validated with PCR-sequencing-based typing (SBT) of 100 samples of unknown genotypes.</p><p><strong>Results: </strong>The PCR protocol can detect the <i>HLA-C*03:02</i> allele and determine the zygosity. The results of this protocol were highly consistent with those of the SBT (ĸ = 0.98, p < 0.001). Regarding the specific detection of the <i>HLA-C*03:02</i> allele, the PCR protocol had a sensitivity of 100% (95% CI: 91.61-100%) and specificity of 98.3% (95% CI: 90.9-99.7%). The protocol was used to determine the distribution of the <i>HLA-C*03:02</i> allele in 810 unrelated Vietnamese Kinh people, 14.2% of which were <i>HLA-C*03:02</i> carriers, the allele frequency was 7.5%.</p><p><strong>Conclusion: </strong>A novel AS-PCR protocol with a sensitivity of 100% for the detection of the <i>HLA-C*03:02</i> allele was established. The protocol can be used for personalized treatment with allopurinol in order to minimize the risk of SCARs in Vietnamese people as well as in other Asian populations with similar genetic characteristics.</p>","PeriodicalId":506374,"journal":{"name":"The Application of Clinical Genetics","volume":"14 ","pages":"27-35"},"PeriodicalIF":3.1,"publicationDate":"2021-02-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/2d/f5/tacg-14-27.PMC7881795.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"25382370","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":"Spinal Muscular Atrophy: Mutations, Testing, and Clinical Relevance.","authors":"Melissa C Keinath,&nbsp;Devin E Prior,&nbsp;Thomas W Prior","doi":"10.2147/TACG.S239603","DOIUrl":"https://doi.org/10.2147/TACG.S239603","url":null,"abstract":"<p><p>Spinal muscular atrophy (SMA) is a heritable neuromuscular disorder that causes degeneration of the alpha motor neurons from anterior horn cells in the spinal cord, which causes severe progressive hypotonia and muscular weakness. With a carrier frequency of 1 in 40-50 and an estimated incidence of 1 in 10,000 live births, SMA is the second most common autosomal recessive disorder. Affected individuals with SMA have a homozygous loss of function of the survival motor neuron gene <i>SMN1</i> on 5q13 but keep the modifying <i>SMN2</i> gene. The most common mutation causing SMA is a homozygous deletion of the <i>SMN1</i> exon 7, which can be readily detected and used as a sensitive diagnostic test. Because <i>SMN2</i> produces a reduced number of full-length transcripts, the number of <i>SMN2</i> copies can modify the clinical phenotype and as such, becomes an essential predictive factor. Population-based SMA carrier screening identifies carrier couples that may pass on this genetic disorder to their offspring and allows the carriers to make informed reproductive choices or prepare for immediate treatment for an affected child. Three treatments have recently been approved by the Food and Drug Administration (FDA). Nusinersen increases the expression levels of the SMN protein using an antisense oligonucleotide to alter splicing of the <i>SMN2</i> transcript. Onasemnogene abeparvovec is a gene therapy that utilizes an adeno-associated virus serotype 9 vector to increase low functional SMN protein levels. Risdiplam is a small molecule that alters <i>SMN2</i> splicing in order to increase functional SMN protein. Newborn screening for SMA has been shown to be successful in allowing infants to be treated before the loss of motor neurons and has resulted in improved clinical outcomes. Several of the recommendations and guidelines in the review are based on studies performed in the United States.</p>","PeriodicalId":506374,"journal":{"name":"The Application of Clinical Genetics","volume":"14 ","pages":"11-25"},"PeriodicalIF":3.1,"publicationDate":"2021-01-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/ab/a3/tacg-14-11.PMC7846873.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"25324507","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":"Role of Adiponectin Gene and Receptor Polymorphisms and Their mRNA Levels with Serum Adiponectin Level in Myocardial Infarction.","authors":"Amany A Saleh,&nbsp;Safaa I Tayel,&nbsp;Awny Gamal Shalaby,&nbsp;Sherin Sobhy El Naidany","doi":"10.2147/TACG.S282843","DOIUrl":"https://doi.org/10.2147/TACG.S282843","url":null,"abstract":"<p><strong>Background and aim: </strong>Genetic factors are vital participants in the development and progression of myocardial infarction (MI). Adiponectin has been assumed to have a protective role in MI and adiponectin receptors variants could be a determinant for atherosclerosis. We aimed to evaluate the prevalence of <i>ADIPOQ</i> (rs2241766) and <i>ADIPOR2</i> (rs10773989) polymorphisms and their association with mRNA levels and circulatory adiponectin levels in patients with MI.</p><p><strong>Subjects and methods: </strong>A total of 220 participants were classified into two groups: group 1 included 120 patients with MI, and group 2 involved 100 healthy participants as controls. Genotyping of <i>ADIPOQ</i> (rs2241766) and <i>ADIPOR2</i> (rs10773989) polymorphisms were analyzed using an allele discrimination assay with real-time PCR and their relative expression or mRNA levels were determined by real-time PCR. Serum adiponectin level was determined using an ELISA technique.</p><p><strong>Results: </strong>The <i>ADIPOQ</i> rs2241766 GG genotype and G allele and the CC genotype and C allele of <i>ADIPOR2</i> rs10773989 were significantly prevalent in patients with MI and associated with increased risk of MI. We detected a marked reduction in serum adiponectin, ADIPOQ and ADIPOR2 mRNA levels in patients than control. The GG genotype of <i>ADIPOQ</i> rs2241766 and the CC genotype of <i>ADIPOR2</i> rs10773989 had the lowest levels of their mRNA and adiponectin level in both patients and controls.</p><p><strong>Conclusion: </strong>Adiponectin gene and receptor variants are potentially related to MI risk; furthermore, their expressions were markedly depressed in MI which suggests their use as potential biomarkers for MI.</p>","PeriodicalId":506374,"journal":{"name":"The Application of Clinical Genetics","volume":"13 ","pages":"241-252"},"PeriodicalIF":3.1,"publicationDate":"2020-12-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/fa/1f/tacg-13-241.PMC7755379.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38763699","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":"A Novel Splice-Site Mutation in the <i>ELN</i> Gene Suggests an Alternative Mechanism for Vascular Elastinopathies.","authors":"Camilo Andres Velandia-Piedrahita,&nbsp;Adrien Morel,&nbsp;Dora Janeth Fonseca-Mendoza,&nbsp;Victor Manuel Huertas-Quiñones,&nbsp;David Castillo,&nbsp;Juan Diego Bonilla,&nbsp;Camilo José Hernandez-Toro,&nbsp;Marta Catalina Miranda-Fernández,&nbsp;Carlos Martin Restrepo,&nbsp;Rodrigo Cabrera","doi":"10.2147/TACG.S282240","DOIUrl":"https://doi.org/10.2147/TACG.S282240","url":null,"abstract":"<p><p>The <i>ELN</i> gene encodes elastin, a fundamental protein of the extracellular matrix that confers elasticity to different tissues including blood vessels. The formation of elastin fibers is a complex process involving monomer coacervation and subsequent crosslinking. Mutations in exons 1-29 of the <i>ELN</i> gene have been linked to supravalvular aortic stenosis (SVAS) whereas mutations in exons 30-33 are associated with autosomal dominant cutis laxa (ADCL). This striking segregation has led to the hypothesis that distinct molecular mechanisms underlie both diseases. SVAS is believed to arise through haploinsufficiency while ADCL is hypothesized to be caused by a dominant negative effect. Here, we describe a patient with SVAS harboring a novel splice-site mutation in the last exon of <i>ELN</i>. The location of this mutation is not consistent with current knowledge of SVAS, since all mutations reported in the C-terminus have been found in ADCL patients, and a thorough evaluation did not reveal significant skin involvement in this case. RT-PCR analysis of skin tissue showed that C-terminal mutations in the region can lead to the production of aberrant transcripts through intron retention and activation of cryptic splice sites and suggest that disruption of the very last exon can lead to functional haploinsufficiency potentially related to SVAS.</p>","PeriodicalId":506374,"journal":{"name":"The Application of Clinical Genetics","volume":"13 ","pages":"233-240"},"PeriodicalIF":3.1,"publicationDate":"2020-12-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/2c/f2/tacg-13-233.PMC7751611.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38752745","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":"Effect of Genetic Testing on Diagnosing Gastrointestinal Pediatric Patients with Previously Undiagnosed Diseases.","authors":"Eyad Altamimi,&nbsp;Mariam Khanfar,&nbsp;Omar Rabab'h,&nbsp;Zain Dardas,&nbsp;Luma Srour,&nbsp;Lina Mustafa,&nbsp;Bilal Azab","doi":"10.2147/TACG.S275992","DOIUrl":"https://doi.org/10.2147/TACG.S275992","url":null,"abstract":"<p><strong>Purpose: </strong>Four consanguineous Jordanian families with affected members of unknown gastrointestinal related diseases were recruited to assess the utility and efficiency of whole exome sequencing (WES) in reaching the definitive diagnosis.</p><p><strong>Patients and methods: </strong>Members from four consanguineous Jordanian families were recruited in this study. Laboratory and imaging tests were used for initial diagnosis, followed by performing WES to test all affected members for the detection of causative variants. Sanger sequencing was used for validation.</p><p><strong>Results: </strong>We had a 100% success rate identifying each case presented in this study.</p><p><strong>Conclusion: </strong>This is the first study applying a WES testing approach in the diagnosis of pediatric diseases in Jordan. Our results strongly suggest the need to implement WES as an evident diagnostic tool in the clinical setting, as it will subsequently allow for proper disease management and genetic counseling.</p>","PeriodicalId":506374,"journal":{"name":"The Application of Clinical Genetics","volume":"13 ","pages":"221-231"},"PeriodicalIF":3.1,"publicationDate":"2020-12-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/0e/eb/tacg-13-221.PMC7751587.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38752744","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":"Voretigene Neparvovec and Gene Therapy for Leber's Congenital Amaurosis: Review of Evidence to Date.","authors":"Srikanta Kumar Padhy,&nbsp;Brijesh Takkar,&nbsp;Raja Narayanan,&nbsp;Pradeep Venkatesh,&nbsp;Subhadra Jalali","doi":"10.2147/TACG.S230720","DOIUrl":"https://doi.org/10.2147/TACG.S230720","url":null,"abstract":"<p><p>Gene therapy has now evolved as the upcoming modality for management of many disorders, both inheritable and non-inheritable. Knowledge of genetics pertaining to a disease has therefore become paramount for physicians across most specialities. Inheritable retinal dystrophies (IRDs) are notorious for progressive and relentless vision loss, frequently culminating in complete blindness in both eyes. Leber's congenital amaurosis (LCA) is a typical example of an IRD that manifests very early in childhood. Research in gene therapy has led to the development and approval of voretigene neparvovec (VN) for use in patients of LCA with a deficient biallelic <i>RPE65</i> gene. The procedure involves delivery of a recombinant virus vector that carries the <i>RPE65</i> gene in the subretinal space. This comprehensive review reports the evidence thus far in support of gene therapy for LCA. We explore and compare the various gene targets including but not limited to <i>RPE65</i>, and discuss the choice of vector and method for ocular delivery. The review details the evolution of gene therapy with VN in a phased manner, concluding with the challenges that lie ahead for its translation for use in communities that differ much both genetically and economically.</p>","PeriodicalId":506374,"journal":{"name":"The Application of Clinical Genetics","volume":"13 ","pages":"179-208"},"PeriodicalIF":3.1,"publicationDate":"2020-11-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.2147/TACG.S230720","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38667292","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":"Hutchinson-Gilford Progeria Syndrome: Clinical and Molecular Characterization.","authors":"Harry Pachajoa,&nbsp;Angelica Claros-Hulbert,&nbsp;Ximena García-Quintero,&nbsp;Lina Perafan,&nbsp;Andres Ramirez,&nbsp;Andres F Zea-Vera","doi":"10.2147/TACG.S238715","DOIUrl":"https://doi.org/10.2147/TACG.S238715","url":null,"abstract":"Abstract Hutchinson–Gilford progeria syndrome (HGPS) is a rare congenital disease caused by mutations in the LMNA gene. Children with HGPS are phenotypically characterized by lipodystrophy, short height, low body weight, scleroderma, reduced joint mobility, osteolysis, senile facial features, and cardiovascular compromise that usually lead to death. We aimed to describe the case of a patient who reached above-average age expectancy for children with HGPS in Latin America and describe the clinical and molecular characteristics of the patient. A 14-year-old female patient was presented with progeria-compatible phenotypic characteristics. HGPS was confirmed via LMNA gene sequencing that detected a heterozygous c.1824C>T (p.Gly608Gly) mutation. The primary aim is to describe the HGPS case, the molecular gene mutation finding, and make a short review of the limited available treatment options for children with HGPS. Such as the farnesyl transferase inhibitors in conjunction with other pharmacological therapies that have insinuated improvement in health, and survival rate.","PeriodicalId":506374,"journal":{"name":"The Application of Clinical Genetics","volume":"13 ","pages":"159-164"},"PeriodicalIF":3.1,"publicationDate":"2020-09-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.2147/TACG.S238715","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38391473","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}