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Article

A novel mutation in the HPGD gene causing primary hypertrophic osteoarthropathy with digital clubbing in a Pakistani family.

Annals of human genetics - 1 May 2018

Khan Anwar Kamal, Muhammad Noor, Khan Sher Alam, Ullah Waheed, Nasir Abdul, Afzal Sibtain, Ramzan Khushnooda, Basit Sulman, Khan Saadullah

Abstract excerpt

Primary hypertrophic osteoarthropathy (PHO) is a congenital multisystemic entity characterized by three major clinical symptoms: pachydermia, periostosis, and digital clubbing. Recently it has been reported that pathogenic mutations in two genes are known to be associated with PHO: HPGD and SLCO2A1. In the present study, a five-generation consanguineous Pakistani family harboring primary hypertrophic...

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Identifiers

PMID: 29282707
DOI: 10.1111/ahg.12239

Genes

HPGD

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A novel mutation in the HPGD gene causing primary hypertrophic osteoarthropathy with digital clubbing in a Pakistani family.PMID 29282707Read ↗

A novel mutation in the SLCO2A1 gene in a Chinese family with primary hypertrophic osteoarthropathy.Semantic proximity Read ↗

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Novel pathogenic variants in SLCO2A1 causing autosomal dominant primary hypertrophic osteoarthropathy.Semantic proximity Read ↗

[Genetic analysis of a pedigree with primary hypertrophic osteoarthropathy].Semantic proximity Read ↗

Touraine-Solente-Gole syndrome: pathogenic variant in SLCO2A1 presented with polyarthralgia and digital clubbingSemantic proximity Read ↗

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Identification of mutations in the prostaglandin transporter gene SLCO2A1 and phenotypic comparison between two subtypes of primary hypertrophic osteoarthropathy (PHO): A single-center study.Semantic proximity Read ↗

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