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

Radhakrishnan, P and Jacob, Prince and Nayak, Shalini S and Shukla, Anju and Girisha, KM (2020) Digital clubbing as the predominant manifestation of hypertrophic osteoarthropathy caused by pathogenic variants in HPGD in three Indian families. Clinical Dysmorphology, 29 (3). pp. 123-126. ISSN 0962-8827

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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.

Item Type: Article
Uncontrolled Keywords: acro-osteolysis; digital clubbing; HPGD osteoarthropathy; pachydermia.
Subjects: Medicine > KMC Manipal > Medical Genetics
Depositing User: KMC Library
Date Deposited: 01 Jul 2021 10:04
Last Modified: 12 May 2022 05:37
URI: http://eprints.manipal.edu/id/eprint/156919

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