The Genetic Basis of Neurological Disorders: Missense and Nonsense Variants in Three Pakistani Families With Syndromic Intellectual Disability
We have identified novel pathogenic variants in ADGRG1, KAT8, and FAM126A in individuals with rare neurological disorders, thereby expanding the genetic and clinical spectrum of these conditions. This study reports, for the first time, an autosomal recessive inheritance pattern for a KAT8-related disorder, providing new insights into its genetic architecture.
Authors
- Fozia Fozia (ORCID: https://orcid.org/0000-0002-4554-7427)
- Shamim Saleha (ORCID: https://orcid.org/0000-0002-1332-0666)
- Samin Jan
- Khalid Javed (ORCID: https://orcid.org/0000-0001-7610-9967)
- Naveed Wasif (ORCID: https://orcid.org/0000-0002-3455-8833)
- Muhammad Irfan Ullah (ORCID: https://orcid.org/0000-0002-2463-2665)
- Saadullah Khan (ORCID: https://orcid.org/0000-0001-5037-1473)
- Muhammad Daud Khan (ORCID: https://orcid.org/0000-0001-8680-3020)
- Salah Ud Din (ORCID: https://orcid.org/0000-0002-4450-7431)
- Syeda Iqra Hussain (ORCID: https://orcid.org/0000-0003-1589-7626)
- Noor Muhammad (ORCID: https://orcid.org/0000-0002-8421-7615)
- Nazif Muhammad
- Adil U. Reman
- Shah Qiaz
Institutions
- Kohat University of Science and Technology (PK)
- Universität Ulm (DE)
- Saidu Teaching Hospital (PK)
- Christian-Albrechts-Universität zu Kiel (DE)
- University Hospital Schleswig-Holstein (DE)
- Universitäts Hautklinik Kiel (DE)
- University of Lübeck (DE)
Publication Details
- Journal
- Annals of Human Genetics
- Published
- 2025-12-05
- DOI
- https://doi.org/10.1111/ahg.70030
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00