BMPR1B gene in brachydactyly type 2 –A family with de novo R486W mutation and a disease phenotype

ConclusionIn this paper, we report a case of BDA2 resulting from the presence of a heterozygous c.1456C>T, p.Arg486Trp variant inBMPR1B, which was previously associated with BDA2. The next generation sequencing analysis of the patients ’ family revealed that the mutation occurredde novo in the proband and was transmitted to his 26 ‐month‐old son. Although the same variant was confirmed in both patients, their phenotypes were different with more severe manifestation of the disease in the adult.

Source: Molecular Genetics & Genomic Medicine - January 24, 2021 Category: Genetics & Stem Cells Authors: Marcin Bednarek, Marek Trybus, Monika Kolanowska, Mateusz Koziej, Beata Kiec ‐Wilk, Artur Dobosz, Marta Kotlarek‐Łysakowska, Anna Kubiak‐Dydo, Ewelina Użarowska‐Gąska, Julia Staręga‐Rosłan, Paweł Gaj, Izabela Górzyńska, Katar Tags: ORIGINAL ARTICLE Source Type: research