AI Article Synopsis
- - The study aimed to investigate the genetic causes of Nance-Horan syndrome in a specific family by analyzing their clinical features and conducting genetic tests.
- - Researchers extracted DNA from family members and healthy controls, used next-generation sequencing to identify a candidate genetic variant, and validated it through further sequencing and analysis.
- - They discovered a new mutation (c.766dupC) in the NHS gene linked to the syndrome, which was absent in unaffected relatives and healthy individuals, suggesting it is a likely cause of the disorder in this family.
Article Abstract
Objective: To explore the genetic basis for a pedigree affected with Nance-Horan syndrome.
Methods: Clinical manifestation of the patients was analyzed. Genomic DNA was extracted from peripheral blood samples of the pedigree members and 100 unrelated healthy controls. A panel of genes for congenital cataract was subjected to next-generation sequencing (NGS), and candidate variant was verified by Sanger sequencing and bioinformatic analysis based on guidelines of American College of Medical Genetics and Genomics (ACMG). mRNA expression was determined by reverse transcriptase-PCR (RT-PCR). Linkage analysis based on short tandem repeats was carried out to confirm the consanguinity.
Results: A small insertional variant c.766dupC (p.Leu256Profs*21) of the NHS gene was identified in the proband and his affected mother, but not among unaffected members and the 100 healthy controls. The variant was unreported in Human Gene Mutation Database (HGMD) and other databases. Based on the ACMG guideline, the variant is predicted to be pathogenic (PVS1+PM2+PM6+PP4).
Conclusion: The novel variant c.766dupC of the NHS gene probably underlay the X-linked dominant Nance-Horan syndrome in this pedigree.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.3760/cma.j.cn511374-20200817-00603 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!