ArticleAnnals of human genetics2018
A novel homozygous variant in BMPR1B underlies acromesomelic dysplasia Hunter-Thompson type.
Article in Annals of human genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed, 14 citations in OpenAlex.
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- Fibular Agenesis and Ball-Like Toes Mimicking Preaxial Polydactyly: Prenatal Presentation of Du Pan Syndrome.Molecular syndromology · 2023Article
- Novel Loss-of-Function Mutations inFrontiers in genetics · 2022Article
- "Lessons from Rare Forms of Osteoarthritis".Calcified tissue international · 2021Review
- A mild case of acromesomelic dysplasia, type Maroteaux with novel natriuretic peptide receptor B (Radiology case reports · 2021Article
- A novel nonsense mutation in NPR2 gene causing Acromesomelic dysplasia, type Maroteaux in a consanguineous family in Southern Punjab (Pakistan).Genes & genomics · 2020Article
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Authors and funding
7 authors at 3 institutions in 2 countries.
Funding
Abstract
Acromesomelic dysplasia is genetically heterogeneous group of skeletal disorders characterized by short stature and acromelia and mesomelia of limbs. Acromesomelic dysplasia segregates in an autosomal recessive pattern and is caused by biallelic sequence variants in three genes (NPR2, GDF5, and BMPR1B). A consanguineous family of Pakistani origin segregating a subtype of acromesomelic dysplasia called Hunter-Thompson was clinically and genetically evaluated. Genotyping of microsatellite markers and linkage analysis revealed a 7.78 Mb homozygous region on chromosome 4q22.3, which harbors BMPR1B. Sequence analysis of the gene revealed a novel homozygous missense variant (c.1190T > G, p.Met397Arg) that segregates with the disease phenotype within the family and produced a Logarithm of odds (LOD) score of 3.9 with the disease phenotype. This study reports on the first familial case of acromesomelic dysplasia Hunter-Thompson type. It is also the first report of BMPR1B underlying the etiology of acromesomelic dysplasia Hunter-Thompson type.
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