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Title: | The ASXL1 mutation p.Gly646Trpfs*12 found in a Turkish boy with Bohring-Opitz syndrome |
Author: | Urreizti, Roser Gürsoy, Semra Castilla-Vallmanya, Laura Cunill, Guillem Rabionet Janssen, Raquel Erçal, Derya Grinberg Vaisman, Daniel Raúl Balcells Comas, Susana |
Keywords: | Mutació (Biologia) Malalties Genètica humana Mutation (Biology) Diseases Human genetics |
Issue Date: | 10-Jun-2018 |
Publisher: | John Wiley & Sons |
Abstract: | Bohring‐Opitz syndrome (BOS, MIM #605039) is a rare and severe disease characterized mainly by intrauterine growth retardation, feeding difficulties, severe to profound developmental delay, nonspecific brain abnormalities, microcephaly, flexion at the elbows with ulnar deviation and flexion of the wrists and metacarpophalangeal joints (known as BOS posture) and distinctive facial features.1 Heterozygous ASXL1 truncating mutations have been identified as the main cause of BOS.1, 2 A recent publication 3 called the attention to the fact that mutations associated with BOS are also present in the ExAC (Exome Aggregation Consortium) database.4 As ASXL1 is one of the genes most commonly mutated during hematopoietic clonal expansion of cells, the authors hypothesized that the presence of this mutation in public databases could be due to somatic mosaicism, and they could confirm the hypothesis by manual examination of the ExAC WES reads. |
Note: | Reproducció del document publicat a: https://doi.org/10.1002/ccr3.1603 |
It is part of: | Clinical Case Reports, 2018, vol. 6, num. 8, p. 1452-1456 |
URI: | https://hdl.handle.net/2445/162801 |
Related resource: | https://doi.org/10.1002/ccr3.1603 |
ISSN: | 2050-0904 |
Appears in Collections: | Articles publicats en revistes (Genètica, Microbiologia i Estadística) |
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