ArticleAdvanced genetics (Hoboken, N.J.)2025
Brachydactyly with Novel BMP8A and FGFR1 Variants: A Case Report with Review of Literature.
Article in Advanced genetics (Hoboken, N.J.), 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
1 citing paper in PubMed.
- Brachydactyly with Novel BMP8A and FGFR1 Variants: A Case Report with Review of Literature.Advanced genetics (Hoboken, N.J.) · 2025Article
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Authors and funding
2 authors.
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No grant is acknowledged in the PubMed record.
Abstract
Bone morphogenetic proteins (BMPs) and the fibroblast growth factor receptor 1 (FGFR1) gene play essential roles in the development and maintenance of the skeletal system. Brachydactyly is a genetic condition characterized by shortened or missing bones in the hands and feet. Several types of brachydactyly have been identified, each associated with different genetic mutations. However, some cases do not fit into existing classifications, necessitating further genetic investigation. A 34-year-old female patient with an absent middle phalanx in the second digit of her left foot and her 13-year-old son, who presented with absent or malformed middle and distal phalanx in all ten toes, are evaluated. Whole Genome Sequencing (WGS) analysis identifies a missense variant (c.1073A >T; p.K358M) in the BMP8A gene and a novel missense variant (c.1787C >T, p.Ser596Phe) in the FGFR1 gene. Functional protein association network analysis demonstrates a strong association of BMP8A and FGFR1 with other brachydactyly disease-causing genes. Given that these mutations have not been previously linked to any recognized brachydactyly subtype, they likely define a distinct genetic condition. The findings suggest a novel form of brachydactyly, which naming is proposed as brachydactyly type AB.
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