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.

中文翻译：

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数字棍打是三个印度家庭中HPGD病原体变异引起的肥厚性骨关节炎的主要表现。

15-羟基前列腺素脱氢酶是HPAD编码的前列腺素生物合成途径中的NAD依赖型催化酶。HPGD的致病性变异会导致原发性肥厚性骨关节炎（PHO）。本研究的目的是确定由于PHO引起的数字化俱乐部的遗传基础。我们对来自印度三个不相关的PHO家庭的患者进行了详细的临床和放射学评估以及外显子组测序。外显子组测序揭示了HPGD中的两个新颖的c.34G> A（p.Gly12Ser）和c.313C> T（p.Gln105 *）和一个已知的变体c.418G> C（p.Ala140Pro）。在此，我们将三个印度家族添加到HPGD突变谱中，并回顾了该基因变异的文献。