Exome sequencing reveals neurodevelopmental genes in simplex consanguineous Iranian families with syndromic autism
In our two syndromic autism families, we discovered variants in two muscular dystrophy genes, DMD and CHKB. Given that DMD and CHKB are recognized for their participation in the non-cognitive manifestations of muscular dystrophy, it indicates that some genes transcend the boundary of apparently unrelated clinical categories, thereby establishing a novel connection between ASD and muscular dystrophy. Our findings also shed light on the complex inheritance patterns observed in Iranian consanguineous simplex families and emphasize the connection between autism spectrum disorder and muscular dystrophy. This underscores a likely genetic convergence between neurodevelopmental and neuromuscular disorders.
Authors
- Afif Ben‐Mahmoud (ORCID: https://orcid.org/0000-0003-3520-8015)
- Davood Omrani
- Seyed Hassan Tonekaboni (ORCID: https://orcid.org/0000-0003-0853-8465)
- Feyzollah Hashemi‐Gorji (ORCID: https://orcid.org/0000-0002-9996-9406)
- Katayoon Razjouyan (ORCID: https://orcid.org/0000-0002-6927-3782)
- Hossein Sadeghi (ORCID: https://orcid.org/0000-0001-9599-6151)
- Hyung‐Goo Kim
- Shadab Salehpour (ORCID: https://orcid.org/0000-0002-0277-809X)
- Reza Mirfakhraie (ORCID: https://orcid.org/0000-0003-1709-8975)
- Mi‐Hyeon Jang (ORCID: https://orcid.org/0000-0001-6274-3588)
- Mohammad‐Reza Ghasemi (ORCID: https://orcid.org/0000-0002-3183-5495)
- Mehdi Dianatpour (ORCID: https://orcid.org/0000-0003-1217-9477)
- Mohammad Miryounesi (ORCID: https://orcid.org/0000-0003-4705-3794)
- Lawrence C. Layman (ORCID: https://orcid.org/0000-0002-7369-9575)
- Vijay Gupta (ORCID: https://orcid.org/0000-0002-3613-6378)
- Saman Bagheri (ORCID: https://orcid.org/0000-0003-0093-6995)
Institutions
- Rutgers, The State University of New Jersey (US)
- Shiraz University of Medical Sciences (IR)
- Augusta University (US)
- Hamad bin Khalifa University (QA)
- Shahid Beheshti University of Medical Sciences (IR)
Publication Details
- Journal
- BMC Medical Genomics
- Published
- 2024-08-05
- DOI
- https://doi.org/10.1186/s12920-024-01969-6
- Citations
- 6
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 3.30
Funders
- Shahid Beheshti University of Medical Sciences
- School of Medicine, Shahid Beheshti University of Medical Sciences
- National Institutes of Health
- Qatar Biomedical Research Institute, Hamad Bin Khalifa University
- National Institute of Child Health and Human Development
- Congressionally Directed Medical Research Programs