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• W2093713574 abstract "<h3>Background</h3> Intellectual disability (ID) is a highly heterogeneous condition affecting 2% of the population worldwide. In a field study conducted in a highly inbred area of Northeastern Brazil, we investigated a consanguineous family in which seven adults presented syndromic ID. <h3>Methods</h3> Genome-Wide Human SNP Array 6.0 (Affymetrix) microarray was used to determine regions of homozygosity-by-descent and whole exome sequencing (WES) was performed in one affected individual using Extended Nextera Rapid-Capture Exome and Illumina HiSeq2500. <h3>Results</h3> We found two regions with an logarithm of the odds (LOD) score of 3.234: a region spanning 4.0 Mb in 19q13.32-q13.33 and a pericentromeric 20 Mb area in chromosome 2 (2p12-q11.2). WES disclosed in the critical region of chromosome 19 a homozygous variant (c.418C>T, p.Arg140Trp) in Mediator complex subunit 25 (<i>MED25</i>), predicted as deleterious by PolyPhen-2, Provean, Mutation Taster and Sorting Intolerant From Tolerant (SIFT). MED25 is a component of the Mediator complex, involved in regulation of transcription of nearly all RNA polymerase II-dependent genes. Deleterious mutations in <i>MED12</i>, <i>MED17</i> and <i>MED23</i> have already been associated with ID. <h3>Conclusions</h3> These findings demonstrate that the combination of field investigation of families in highly inbred regions with modern technologies is an effective way for identifying new genes associated with ID." @default.
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• W2093713574 date "2014-12-19" @default.
• W2093713574 modified "2023-09-27" @default.
• W2093713574 title "Homozygous missense mutation in<i>MED25</i>segregates with syndromic intellectual disability in a large consanguineous family" @default.
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• W2093713574 doi "https://doi.org/10.1136/jmedgenet-2014-102793" @default.
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