Open AccessThe ASXL1 mutation p.Gly646Trpfs*12 found in a Turkish boy with Bohring‐Opitz Syndrome
Author(s) -
Urreizti Roser,
Gürsoy Semra,
CastillaVallmanya Laura,
Cunill Guillem,
Rabionet Raquel,
Erçal Derya,
Grinberg Daniel,
Balcells Susana
Publication year - 2018
Publication title -
clinical case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.21
H-Index - 9
ISSN - 2050-0904
DOI - 10.1002/ccr3.1603
Subject(s) - medicine , mutation , turkish , disease , genetics , turkish population , first line , population , pediatrics , gene , biology , environmental health , linguistics , philosophy , genotype
Key Clinical Message 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.