TY - JOUR
T1 - Digital clubbing as the predominant manifestation of hypertrophic osteoarthropathy caused by pathogenic variants in HPGD in three Indian families
AU - Radhakrishnan, Periyasamy
AU - Jacob, Prince
AU - Nayak, Shalini S.
AU - Gowrishankar, Kalpana
AU - Prakash Soni, Jai
AU - Shukla, Anju
AU - Girisha, Katta M.
PY - 2020/7/1
Y1 - 2020/7/1
N2 - 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.
AB - 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.
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U2 - 10.1097/MCD.0000000000000324
DO - 10.1097/MCD.0000000000000324
M3 - Article
C2 - 32282352
AN - SCOPUS:85086051711
SN - 0962-8827
VL - 29
SP - 123
EP - 126
JO - Clinical Dysmorphology
JF - Clinical Dysmorphology
IS - 3
ER -