Article
Non-manifesting AHI1 truncations indicate localized loss-of-function tolerance in a severe Mendelian disease gene.
Human molecular genetics - 1 May 2015
Elsayed Solaf M, Phillips Jennifer B, Heller Raoul, Thoenes Michaela, Elsobky Ezzat, Nürnberg Gudrun, Nürnberg Peter, Seland Saskia, Ebermann Inga, Altmüller Janine, Thiele Holger, Toliat Mohammad, Körber Friederike, Hu Xue-Jia, Wu Yun-Dong, Zaki Maha S, Abdel-Salam Ghada, Gleeson Joseph, Boltshauser Eugen, Westerfield Monte, Bolz Hanno J
Abstract excerpt
Determination of variant pathogenicity represents a major challenge in the era of high-throughput sequencing. Erroneous categorization may result if variants affect genes that are in fact dispensable. We demonstrate that this also applies to rare, apparently unambiguous truncating mutations of an established disease gene. By whole-exome sequencing (WES) in a consanguineous family with congenital non-syndromic...
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