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Clin Case Rep. 2018 Jun 10;6(8):1452-1456. doi: 10.1002/ccr3.1603. eCollection 2018 Aug.

The ASXL1 mutation p.Gly646Trpfs*12 found in a Turkish boy with Bohring-Opitz Syndrome.

Author information

1
Department of Genetics, Microbiology and Statistics Faculty of Biology University of Barcelona IBUB, IRSJD, CIBERER Barcelona Spain.
2
Department of Pediatric Genetics Dokuz Eylül University İzmir Turkey.

Abstract

In line with a recent study showing that ASXL1 mutations found in the common population cannot be ruled out as pathogenic, we have identified the ASXL1 p.Gly646Trpfs*12 mutation-present in 132 individuals in ExAC-as a very probable cause of the disease in a Bohring-Opitz syndrome patient.

KEYWORDS:

ASXL1; Bohring‐Opitz syndrome; intellectual disability; mutation prioritization; variants of unknown significance

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