Novel SLCO2A1 Mutations Cause Gender Differentiated Pachydermoperiostosis

Overview

Journal Endocr Connect

Specialty Endocrinology

Date 2018 Oct 24

PMID 30352415

Citations 1

Authors

Lijuan Yuan

Xihui Chen

Ziyu Liu

Dan Wu

Jianguo Lu

Guoqiang Bao

Sijia Zhang

Lifeng Wang

Yuanming Wu

Affiliations

Soon will be listed here.

Abstract

Primary hypertrophic osteoarthropathy (PHO) is a rare familial disorder with reduced penetrance for females. The genetic mutations associated with PHO have been identified in HPGD and SLCO2A1 which involved in prostaglandin E2 metabolism. Here we report 5 PHO patients from 4 non-consanguineous families. Two heterozygous mutations in solute carrier organic anion transporter family member 2A1 (SLCO2A1) were identified in two brothers by whole-exome sequencing. Three heterozygous mutations and 1 homozygous mutation were identified in other 3 PHO families by Sanger sequencing. However, there was no mutation in HPGD. These findings confirmed that homozygous or compound heterozygous mutations of SLCO2A1 were the pathogenic cause of PHO. A female individual shared the same mutations in SLCO2A1 with her PHO brother but did not have any typical PHO symptoms. The influence of sex hormones on the pathogenesis of PHO and its implication were discussed.

Citing Articles

Chronic Enteropathy Associated with SLCO2A1 with Pachydermoperiostosis.

Tsuzuki Y, Aoyagi R, Miyaguchi K, Ashitani K, Ohgo H, Yamaoka M Intern Med. 2020; 59(24):3147-3154.

PMID: 33328413 PMC: 7807103. DOI: 10.2169/internalmedicine.4756-20.

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