A novel mutation in the HPGD gene causing primary hypertrophic osteoarthropathy with digital clubbing in a Pakistani family. (28th December 2017)

• Record Type: Journal Article
• Authors: Khan, Anwar Kamal; Muhammad, Noor; Khan, Sher Alam; Ullah, Waheed; Nasir, Abdul; Afzal, Sibtain; Ramzan, Khushnooda; Basit, Sulman; Khan, Saadullah
• Is Part Of: Annals of human genetics. Volume 82:Number 3(2018:May)
• Page Start: 171
• Page End: 176
• Publication Date: 2017-12-28
• Subjects: HPGD -- mutation -- Pakistani family -- PHO; Human genetics -- Periodicals; 599.935
• DOI: 10.1111/ahg.12239
• Languages: English
• ISSNs: 0003-4800

Abstract

Abstract: 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.