Original ArticlesDigital clubbing as the predominant manifestation of hypertrophic osteoarthropathy caused by pathogenic variants in HPGD in three Indian familiesRadhakrishnan, Periyasamya; Jacob, Princea; Nayak, Shalini S.a; Gowrishankar, Kalpanab; Prakash Soni, Jaic; Shukla, Anjua; Girisha, Katta M.aAuthor Information aDepartment of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal bDepartment of Medical Genetics, Apollo Children’s Hospitals, Chennai cDepartment of Pediatrics, Dr. S.N. Medical College, Jodhpur, India Received 20 January 2020 Accepted 26 February 2020 Supplemental Digital Content is available for this article. Direct URL citations appear in the printed text and are provided in the HTML and PDF versions of this article on the journal's website, http://www.clindysmorphol.com. Correspondence to Katta M. Girisha, MD, DM, Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal 576104, India, Tel: +91820 2922636; fax: +91820 2571934; e-mail: [email protected] Clinical Dysmorphology: July 2020 - Volume 29 - Issue 3 - p 123-126 doi: 10.1097/MCD.0000000000000324 Buy SDC Metrics 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. Copyright © 2020 Wolters Kluwer Health, Inc. All rights reserved.