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Article

A novel R486Q mutation in BMPR1B resulting in either a brachydactyly type C/symphalangism-like phenotype or brachydactyly type A2.

European journal of human genetics : EJHG - 1 Dec 2006

Lehmann Katarina, Seemann Petra, Boergermann Jan, Morin Gilles, Reif Silke, Knaus Petra, Mundlos Stefan

Abstract excerpt

Heterozygous missense mutations in the serine-threonine kinase receptor BMPR1B result typically in brachydactyly type A2 (BDA2), whereas mutations in the corresponding ligand GDF5 cause brachydactyly type C (BDC). Mutations in the GDF inhibitor Noggin (NOG) or activating mutations in GDF5 cause p...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 16957682
DOI: 10.1038/sj.ejhg.5201708

Genes

GDF5
NOG

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-16957682-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

A novel R486Q mutation in BMPR1B resulting in either a brachydactyly type C/symphalangism-like phenotype or brachydactyly type A2.PMID 16957682Read ↗

Mutations in bone morphogenetic protein receptor 1B cause brachydactyly type A2.Semantic proximity Read ↗

Activating and deactivating mutations in the receptor interaction site of GDF5 cause symphalangism or brachydactyly type A2.Semantic proximity Read ↗

Novel mutation in the BMPR1B gene (R486L) in a Polish family and further delineation of the phenotypic features of BMPR1B-related brachydactyly.Semantic proximity Read ↗

A Novel Heterozygous c.1024A>G Variant in BMPR1B Causes Either Isolated Brachydactyly Type A4 With Variable Expressivity or Incomplete Type A4 Overlapping Type D in a Chinese Han Pedigree.Semantic proximity Read ↗

A GDF5 Point Mutation Strikes Twice - Causing BDA1 and SYNS2Semantic proximity Read ↗

BMPR1B gene in brachydactyly type 2-A family with de novo R486W mutation and a disease phenotype.Semantic proximity Read ↗

Mutations in GDF5 reveal a key residue mediating BMP inhibition by NOGGIN.Semantic proximity Read ↗

A mutation in the receptor binding site of GDF5 causes Mohr-Wriedt brachydactyly type A2.Semantic proximity Read ↗

A novel mutation in GDF5 causes autosomal dominant symphalangism in two Chinese families.Semantic proximity Read ↗

New insights into the molecular mechanism of multiple synostoses syndrome (SYNS): mutation within the GDF5 knuckle epitope causes noggin-resistance.Semantic proximity Read ↗

Cushing proximal symphalangism and the NOG and GDF5 genes.Semantic proximity Read ↗

The RGM/DRAGON family of BMP co-receptorsSemantic proximity Read ↗

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