Metabolomics,Unknown,Transcriptomics,Genomics,Proteomics

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Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability.

ABSTRACT: Intellectual disability is a common condition that carries lifelong severe medical and developmental consequences. The causes of intellectual disability (ID) remain unknown for the majority of patients due to the extensive clinical and genetic heterogeneity of this disorder. De novo mutations may play an important role in ID as most individuals with ID present as isolated cases without family history and/or clear syndromic indication. In addition, the involvement of such mutations have recently been demonstrated in a small number of individuals with ID. Here we evaluate the diagnostic potential and role of de novo mutations in a cohort of 100 patients with ID of unknown cause using family-based exome sequencing. Single end short-read (50 bp) SOLiD 4 sequencing data for 300 individuals, constituting 100 patient-parent trios. For more details please read; http://www.nejm.org/doi/full/10.1056/NEJMoa1206524. Dataset is created by RUNMC (Radboud University, Nijmegen Medical Center), partner of Geuvadis consortium (http://www.geuvadis.org).

INSTRUMENT(S): AB SOLiD 4 System

ORGANISM(S): Homo sapiens

SUBMITTER:  

PROVIDER: E-GEUV-5 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress

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<h4>Background</h4>The causes of intellectual disability remain largely unknown because of extensive clinical and genetic heterogeneity.<h4>Methods</h4>We evaluated patients with intellectual disability to exclude known causes of the disorder. We then sequenced the coding regions of more than 21,000 genes obtained from 100 patients with an IQ below 50 and their unaffected parents. A data-analysis procedure was developed to identify and classify de novo, autosomal recessive, and X-linked mutation  ...[more]

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