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Genetics of intellectual disability in consanguineous families.
- Source :
-
Molecular psychiatry [Mol Psychiatry] 2019 Jul; Vol. 24 (7), pp. 1027-1039. Date of Electronic Publication: 2018 Jan 04. - Publication Year :
- 2019
-
Abstract
- Autosomal recessive (AR) gene defects are the leading genetic cause of intellectual disability (ID) in countries with frequent parental consanguinity, which account for about 1/7th of the world population. Yet, compared to autosomal dominant de novo mutations, which are the predominant cause of ID in Western countries, the identification of AR-ID genes has lagged behind. Here, we report on whole exome and whole genome sequencing in 404 consanguineous predominantly Iranian families with two or more affected offspring. In 219 of these, we found likely causative variants, involving 77 known and 77 novel AR-ID (candidate) genes, 21 X-linked genes, as well as 9 genes previously implicated in diseases other than ID. This study, the largest of its kind published to date, illustrates that high-throughput DNA sequencing in consanguineous families is a superior strategy for elucidating the thousands of hitherto unknown gene defects underlying AR-ID, and it sheds light on their prevalence.
- Subjects :
- Adult
Consanguinity
Exome genetics
Family
Female
High-Throughput Nucleotide Sequencing methods
Homozygote
Humans
Iran
Male
Middle Aged
Mutation genetics
Pedigree
Protein Interaction Maps genetics
Exome Sequencing methods
Whole Genome Sequencing methods
Genes, Recessive genetics
Intellectual Disability genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1476-5578
- Volume :
- 24
- Issue :
- 7
- Database :
- MEDLINE
- Journal :
- Molecular psychiatry
- Publication Type :
- Academic Journal
- Accession number :
- 29302074
- Full Text :
- https://doi.org/10.1038/s41380-017-0012-2