The genetic cause of neurodevelopmental disorders in 30 consanguineous families
In the present study, we observed a high frequency of <i>ASPM</i> variants in the genetic analysis of 30 consanguineous families exhibiting features of NDDs, particularly those associated with autosomal recessive primary microcephaly. These findings contribute to studies on genotype-phenotype correlation, genetic counseling for families, and a deeper understanding of human brain function and development.
Authors
- Abid Jan (ORCID: https://orcid.org/0000-0003-1267-3870)
- Khalid A. Fakhro (ORCID: https://orcid.org/0000-0002-3150-1276)
- Qamre Alam (ORCID: https://orcid.org/0000-0001-8980-2437)
- Sohail Aziz Paracha (ORCID: https://orcid.org/0000-0002-2616-1705)
- Safdar Abbas (ORCID: https://orcid.org/0000-0003-0700-0284)
- Afnan Alkathiri
- Mohammad Azhar Kamal (ORCID: https://orcid.org/0000-0002-0180-3441)
- Jawad Ahmed (ORCID: https://orcid.org/0000-0003-3074-1953)
- Shoaib Nawaz (ORCID: https://orcid.org/0000-0003-3141-6693)
- Nida Tabassum Khan (ORCID: https://orcid.org/0000-0002-5206-6664)
- Abdullah Hamadi (ORCID: https://orcid.org/0000-0002-1095-5455)
- Federico Santoni (ORCID: https://orcid.org/0000-0002-3258-4747)
- Muhammad Ansar (ORCID: https://orcid.org/0000-0001-5891-7063)
- Asmat Shaheen (ORCID: https://orcid.org/0000-0001-7858-2723)
- Stylianos E. Antonarakis (ORCID: https://orcid.org/0000-0001-8907-5823)
- Naseeb Ullah (ORCID: https://orcid.org/0000-0002-2219-7081)
- Muhammad Umair (ORCID: https://orcid.org/0000-0001-6729-9746)
- Gohar Zaman
- Ahmed Waqas
- Sundus Khwaja
- Bisma Khalid
- Muhammad Tahir Sarwar
- Saman Farman
- Fahim Shah
Institutions
- Dartmouth College (US)
- University of Geneva (CH)
- Prince Sattam Bin Abdulaziz University (SA)
- University of Azad Jammu and Kashmir (PK)
- COMSATS University Islamabad (PK)
- Kohat University of Science and Technology (PK)
- King Saud bin Abdulaziz University for Health Sciences (SA)
- University of Balochistan (PK)
- Khyber Medical University (PK)
- Hayatabad Medical Complex (PK)
- Centre Hospitalier Universitaire Vaudois (CH)
- Abbottabad University of Science and Technology (PK)
- Dow University of Health Sciences (PK)
- King Abdullah International Medical Research Center (SA)
- Fondation Asile des Aveugles (CH)
- Hamad bin Khalifa University (QA)
- Weill Cornell Medical College in Qatar (QA)
- National Research Council (IT)
- National Guard Health Affairs (SA)
- Al Baha University (SA)
- University of Tabuk (SA)
- University of Management and Technology (PK)
- University of Lausanne (CH)
Publication Details
- Journal
- Frontiers in Medicine
- Published
- 2024-08-30
- DOI
- https://doi.org/10.3389/fmed.2024.1424753
- Citations
- 6
- Primary Topic
- Genetics and Neurodevelopmental Disorders
- Type
- article
- Field-Weighted Citation Impact
- 3.30
Funders
- National Science Foundation
- Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung
- Fonds National de la Recherche Luxembourg
- King Abdullah International Medical Research Center
- Qatar National Research Fund