Digital clubbing as the predominant manifestation of hypertrophic osteoarthropathy caused by pathogenic variants in HPGD in three Indian families

Periyasamy Radhakrishnan, Prince Jacob, Shalini S. Nayak, Kalpana Gowrishankar, Jai Prakash Soni, Anju Shukla, Katta M. Girisha

Research output: Contribution to journalArticle

Abstract

15-Hydroxyprostaglandin dehydrogenase is NAD-dependent catalytic enzyme involved in prostaglandin biosynthesis pathway encoded by HPGD. The pathogenic variations in HPGD cause primary hypertrophic osteoarthropathy (PHO). The objective of the present study is to identify the genetic basis in patients with digital clubbing due to PHO. We performed detailed clinical and radiographic evaluation and exome sequencing in patients from three unrelated Indian families with PHO. Exome sequencing revealed two novel, c.34G>A (p.Gly12Ser) and c.313C>T (p.Gln105*) and a known variant, c.418G>C (p.Ala140Pro) in HPGD. Herein, we add three Indian families to HPGD mutation spectrum and review the literature on variants in this gene.

Original languageEnglish
Pages (from-to)123-126
Number of pages4
JournalClinical Dysmorphology
Volume29
Issue number3
DOIs
Publication statusPublished - 01-07-2020

All Science Journal Classification (ASJC) codes

  • Pediatrics, Perinatology, and Child Health
  • Anatomy
  • Pathology and Forensic Medicine
  • Genetics(clinical)

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