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A novel mutation in the HPGD gene causing primary hypertrophic osteoarthropathy with digital clubbing in a Pakistani family
Author(s) -
Khan Anwar Kamal,
Muhammad Noor,
Khan Sher Alam,
Ullah Waheed,
Nasir Abdul,
Afzal Sibtain,
Ramzan Khushnooda,
Basit Sulman,
Khan Saadullah
Publication year - 2018
Publication title -
annals of human genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.537
H-Index - 77
eISSN - 1469-1809
pISSN - 0003-4800
DOI - 10.1111/ahg.12239
Subject(s) - spinal osteoarthropathy , mutation , hypertrophic osteoarthropathy , genetics , medicine , gene , biology , dermatology , pathology
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 osteoarthropathy in autosomal‐recessive pattern was ascertained. Whole genome single nucleotide polymorphisms (SNPs) genotyping and sequence analysis revealed a novel homozygous missense mutation (c.577T˃C) of the human HPGD gene in all affected members of the family. The study presented here demonstrate the first case of primary hypertrophic osteoarthropathy reported in Pashtun population.