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Exome sequencing reveals a novel mutation for autosomal recessive non-syndromic mental retardation in the TECR gene on chromosome 19p13
- Source :
- Human Molecular Genetics. 20:1285-1289
- Publication Year :
- 2011
- Publisher :
- Oxford University Press (OUP), 2011.
-
Abstract
- Exome sequencing is a powerful tool for discovery of the Mendelian disease genes. Previously, we reported a novel locus for autosomal recessive non-syndromic mental retardation (NSMR) in a consanguineous family [Nolan, D.K., Chen, P., Das, S., Ober, C. and Waggoner, D. (2008) Fine mapping of a locus for nonsyndromic mental retardation on chromosome 19p13. Am. J. Med. Genet. A, 146A, 1414–1422]. Using linkage and homozygosity mapping, we previously localized the gene to chromosome 19p13. The parents of this sibship were recently included in an exome sequencing project. Using a series of filters, we narrowed the putative causal mutation to a single variant site that segregated with NSMR: the mutation was homozygous in five affected siblings but in none of eight unaffected siblings. This mutation causes a substitution of a leucine for a highly conserved proline at amino acid 182 in TECR (trans-2,3-enoyl-CoA reductase), a synaptic glycoprotein. Our results reveal the value of massively parallel sequencing for identification of novel disease genes that could not be found using traditional approaches and identifies only the seventh causal mutation for autosomal recessive NSMR.
- Subjects :
- Male
Synaptic Membranes
Locus (genetics)
Biology
Intellectual Disability
Genetics
medicine
Humans
Molecular Biology
Gene
Genetics (clinical)
Exome sequencing
Membrane Glycoproteins
Autosome
Massive parallel sequencing
Genetic Diseases, Inborn
Chromosome
Articles
General Medicine
medicine.disease
Disease gene identification
Pedigree
Developmental disorder
Mutation
Female
Oxidoreductases
Chromosomes, Human, Pair 19
Subjects
Details
- ISSN :
- 14602083 and 09646906
- Volume :
- 20
- Database :
- OpenAIRE
- Journal :
- Human Molecular Genetics
- Accession number :
- edsair.doi.dedup.....b36cfbdf95cbcf1683cfc03a20280eee