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Publication Details

Title :

Truncating biallelic variant in DNAJA1, encoding the co-chaperone Hsp40, is associated with intellectual disability and seizures

Journal:

Neurogenetics

Impact Factor:

3.017

Authors:

Alsahli S1,2, Alfares A3,4, Guzmán-Vega FJ5, Arold ST5, Ba-Armah D2,6, Al Mutairi F7,8.

Affiliations:

1 Department of Pediatric Neurology, Texas Children’s Hospital, Baylor College of Medicine, Houston, TX, USA.

2 King Abdullah International Medical Research Center (KAIMRC), College of Medicine, King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia.

3 Department of Pathology and Laboratory Medicine, King Abdulaziz Medical City, Ministry of National Guard-Health Affairs (MNGHA), Riyadh, Saudi Arabia.

4 Department of Pediatrics, Qassim University, Almulyda, Buraydah, Saudi Arabia.

5 Division of Biological and Environmental Sciences and Engineering (BESE), King Abdullah University of Science and Technology (KAUST), Computational Bioscience Research Center (CBRC), Thuwal, 23955-6900, Saudi Arabia.

6 Department of Pediatrics, King Abdulaziz Medical City, Division of Pediatric Neurology, Ministry of National Guard-Health Affairs (MNGHA), Riyadh, Saudi Arabia.

7 King Abdullah International Medical Research Center (KAIMRC), College of Medicine, King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia. almutairifu@ngha.med.sa.

8 Division of Genetics, Department of Pediatrics, King Abdulaziz Medical City, Ministry of National Guard-Health Affairs (MNGHA), Riyadh, Saudi Arabia. almutairifu@ngha.med.sa.

Year of Publication:

2019

DOI:

10.1007/s10048-019-00573-6

Abstract:

Intellectual disability poses a huge burden on the health care system, and it is one of the most common referral reasons to the genetic and child neurology clinic. Intellectual disability (ID) is genetically heterogeneous, and it is associated with several other neurological conditions. Exome sequencing is a robust genetic tool and has revolutionized the process of molecular diagnosis and novel gene discovery. Besides its diagnostic clinical value, novel gene discovery is prime in reverse genetics, when human mutations help to understand the function of a gene and may aid in better understanding of the human brain and nervous system. Using WES, we identified a biallelic truncating variant in DNAJA1 gene (c.511C>T p.(Gln171*) in a multiplex Saudi consanguineous family. The main phenotype shared between the siblings was intellectual disability and seizure disorder.