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BMPR1B – brachydactyly type A1

Brachydactyly type A1 is an autosomal dominant disorder primarily characterized by hypoplasia or aplasia of the middle phalanges of digits 2–5 (PMID:25758993). Two unrelated probands with complex BDA1 phenotypes harbored heterozygous BMPR1B variants: c.975A>C (p.Lys325Asn) and c.447-1G>A, both absent from population controls and predicted deleterious (PMID:25758993).

The splice-site c.447-1G>A variant is predicted to cause a frameshift, while p.Lys325Asn affects the kinase domain, and both are likely to act via a dominant-negative mechanism analogous to BMPR1B mutations in brachydactyly type A2 (PMID:25758993). No additional segregation data are available. These findings expand the genetic spectrum of BDA1 and support sequencing of BMPR1B in patients with brachydactyly type A1.

References

  • European journal of human genetics : EJHG • 2015 • Two novel disease-causing variants in BMPR1B are associated with brachydactyly type A1. PMID:25758993

Evidence Based Scoring (AI generated)

Gene–Disease Association

Limited

Two unrelated probands with novel BMPR1B variants provide preliminary evidence ([PMID:25758993]).

Genetic Evidence

Limited

Identification of two heterozygous pathogenic variants in two unrelated individuals; no segregation data available ([PMID:25758993]).

Functional Evidence

Limited

Variants predicted to disrupt splicing or kinase function and to act via dominant-negative mechanism analogous to BDA2 mutations ([PMID:25758993]).