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

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.

SUBMITTER: Urreizti R

PROVIDER: S-EPMC6099046 | biostudies-literature | 2018 Aug

REPOSITORIES: biostudies-literature

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

Urreizti Roser R Gürsoy Semra S Castilla-Vallmanya Laura L Cunill Guillem G Rabionet Raquel R Erçal Derya D Grinberg Daniel D Balcells Susana S

Clinical case reports 20180610 8

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. ...[more]

PMID: 30147881

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