Article
A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis.
European journal of human genetics : EJHG - 1 Sept 2021
de Boer Elke, Ockeloen Charlotte W, Matalonga Leslie, Horvath Rita, Rodenburg Richard J, Coenen Marieke J H, Janssen Mirian, Henssen Dylan, Gilissen Christian, Steyaert Wouter, Paramonov Ida, Trimouille Aurélien, Kleefstra Tjitske, Verloes Alain, Vissers Lisenka E L M
Abstract excerpt
The genetic etiology of intellectual disability remains elusive in almost half of all affected individuals. Within the Solve-RD consortium, systematic re-analysis of whole exome sequencing (WES) data from unresolved cases with (syndromic) intellectual disability (n = 1,472 probands) was performed. This re-analysis included variant calling of mitochondrial DNA (mtDNA) variants, although mtDNA is not specifically...
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