Syndromic forms of inherited retinal dystrophies: a comprehensive molecular diagnosis of consanguineous Pakistani families using capture panel sequencing.
This study reaffirms the clinical and genetic heterogeneity of syndromic IRD-associated genes and confirms the usefulness of molecular methods in advancing our understanding of these conditions in consanguineous populations. The most commonly mutated Bardet-Biedl syndrome gene was <i>ARL6</i> (75%) and the most commonly mutated Usher syndrome genes were <i>USH2A</i> (40%) and <i>MYO7A</i> (40%). Our data could serve as a reference for future studies and the development of treatment modalities for affected families of Pakistani origin.
Authors
- Aleesha Asghar (ORCID: https://orcid.org/0009-0004-3617-8406)
- Muhammad Shoaib (ORCID: https://orcid.org/0000-0002-0051-6803)
- Sarwat Fatima (ORCID: https://orcid.org/0000-0001-7117-126X)
- Sabika Firasat (ORCID: https://orcid.org/0000-0003-4959-7832)
- Sidra Altaf (ORCID: https://orcid.org/0000-0001-7717-1375)
- Kiran Afshan (ORCID: https://orcid.org/0000-0002-3979-7606)
- Rui Chen (ORCID: https://orcid.org/0000-0002-4387-9735)
- Yumei Li (ORCID: https://orcid.org/0000-0002-4908-8459)
- Sajid Rehman (ORCID: https://orcid.org/0000-0003-1959-5203)
- Sumbal Wazir
- Hussan Bilal
Institutions
- Quaid-i-Azam University (PK)
- Baylor College of Medicine (US)
Publication Details
- Journal
- PubMed
- Published
- 2025-01-01
- Primary Topic
- Retinal Diseases and Treatments
- Type
- article
- Field-Weighted Citation Impact
- 0.00