Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Dept of Molecular Biology and Genetics, |
RCV000519599 | SCV000579434 | pathogenic | Brachydactyly type A2; Acromesomelic dysplasia 3; Acromesomelic dysplasia 2B; Brachydactyly type A1D | no assertion criteria provided | research | Affected sibs from a consanguineous family have a unique combination of digit malformations characterized by brachydactyly and camptodactyly of certain digits in hands and feet, symphalangism of some fingers, and zygodactyly in feet. Structural protein modelling, protein sequence conservation and in silico analysis indicate that the variant we identified in BMPR1B affects protein function. BMPR1B is known to be responsible for autosomal dominant brachydactyly and autosomal recessive acromesomelic chondrodysplasia. Therefore, the variant explains the phenotype in the family. |