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Two novel disease-causing variants in BMPR1B are associated with brachydactyly type A1
Lemuel Racacho1,2, Ashley M Byrnes1,3, Heather MacDonald3
1Faculty of Medicine, Department of Biochemistry, Microbiology and Immunology, University of Ottawa, Ottawa, ON, Canada.
European Journal of Human Genetics : EJHG
|March 12, 2015
Summary
Pathogenic variants in BMPR1B cause Brachydactyly type A1 (BDA1), a disorder affecting finger and toe bone development. These findings expand the genetic understanding of BDA1 and related skeletal conditions.
Area of Science:
- Genetics
- Developmental Biology
- Skeletal Dysplasias
Background:
- Brachydactyly type A1 (BDA1) is an autosomal dominant disorder characterized by hypoplasia/aplasia of middle phalanges.
- Genetic studies have linked the BMP-SMAD signaling pathway, including IHH and GDF5, to brachymesophalangies like BDA1.
Purpose of the Study:
- To investigate the role of BMPR1B in the pathogenesis of complex Brachydactyly type A1.
- To identify novel genetic variants associated with BDA1 phenotypes.
Main Methods:
- Genetic sequencing of BMPR1B in patients with BDA1.
- Analysis of identified variants for their predicted impact on protein function.
Main Results:
- Identified pathogenic variants in BMPR1B in two patients with complex BDA1.
- One patient had a missense variant (c.975A>C), and the other had a splice site variant (c.447-1G>A) predicted to cause a frameshift.
- Both mutations are likely to act in a dominant-negative manner.
Conclusions:
- BMPR1B is implicated in the pathogenesis of Brachydactyly type A1.
- These findings highlight a phenotypic continuum between BDA1 and Brachydactyly type A2.
- The study expands the genetic landscape of skeletal dysplasias involving the BMP signaling pathway.
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