BMPR1B 基因在 2-A 型短指症家系中存在从头 R486W 突变和疾病表型。
BMPR1B gene in brachydactyly type 2-A family with de novo R486W mutation and a disease phenotype.
机构信息
2nd Department of General Surgery, Jagiellonian University Medical College, Krakow, Poland.
University Hospital, Krakow, Poland.
出版信息
Mol Genet Genomic Med. 2021 Mar;9(3):e1594. doi: 10.1002/mgg3.1594. Epub 2021 Jan 24.
BACKGROUND
Brachydactylies are a group of inherited conditions, characterized mainly by the presence of shortened fingers and toes. Based on the patients' phenotypes, brachydactylies have been subdivided into 10 subtypes. In this study, we have identified a family with two members affected by brachydactyly type A2 (BDA2). BDA2 is caused by mutations in three genes: BMPR1B, BMP2 or GDF5. So far only two studies have reported the BDA2 cases caused by mutations in the BMPR1B gene.
METHODS
We employed next-generation sequencing to identify mutations in culpable genes.
RESULTS AND CONCLUSION
In this paper, we report a case of BDA2 resulting from the presence of a heterozygous c.1456C>T, p.Arg486Trp variant in BMPR1B, which was previously associated with BDA2. The next generation sequencing analysis of the patients' family revealed that the mutation occurred de 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.
背景
短指（趾）症是一组遗传性疾病，其主要特征为手指和脚趾缩短。根据患者的表型，短指（趾）症可细分为 10 个亚型。本研究鉴定了一个受短指（趾）症 A2 型（BDA2）影响的两个家族成员。BDA2 是由 BMPR1B、BMP2 或 GDF5 这三个基因的突变引起的。到目前为止，只有两项研究报告了由 BMPR1B 基因突变引起的 BDA2 病例。
方法
我们采用下一代测序技术鉴定致病基因的突变。
结果与结论
本文报道了一例 BDA2 病例，该病例由 BMPR1B 基因中的杂合 c.1456C>T，p.Arg486Trp 变异引起，该变异之前与 BDA2 相关。对患者家系的下一代测序分析显示，该突变是先证者的新生突变，并遗传给了他 26 月龄的儿子。尽管两个患者均证实存在相同的变异，但他们的表型不同，成年患者的疾病表现更为严重。
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