Two cases of primary hypertrophic osteoarthropathy with SLCO2A1 gene mutations
10.11817/j.issn.1672-7347.2018.01.016
- VernacularTitle:原发性肥大性骨关节病并SLCO2A1基因突变2例
- Author:
Ping JIN
1
;
Qin ZHANG
;
Honghui HE
;
Weihao ZHU
;
Xiaodan LONG
;
Zhaohui MO
Author Information
1. 中南大学湘雅三医院内分泌科
- Keywords:
primary hypertrophic osteoarthropathy;
pachydermoperiostosis;
SLCO2A1 gene;
mutation
- From:
Journal of Central South University(Medical Sciences)
2018;43(1):100-105
- CountryChina
- Language:Chinese
-
Abstract:
Two patients with primary hypertrophic osteoarthropathy (PHO) and their available healthy family members were studied.All exons of the SLCO2A1 and HPGD gene and adjacent exonintron sequences were amplified by PCR and subsequently sequenced.To assess the damaging effects of missense mutations in silico,the online database,PolyPhen-2 and SIFT were used.We identified two homozygous mutations in SLCO2A1 gene:one was c.1106G＞A (p.G369D) in exon 9,the other was c.611C＞T (p.S204L) in exon 4.No HPGD mutation was found in the affected individuals.The two mutation were predicted in silico by the bioinformatic tools.Our study further supports the role of mutations in the SLCO2A1 gene in the pathogenesis of PHO.Identification of the genotype in PHO may not only help the clinical diagnosis of PHO but also help the interpretation of genetic information for prenatal diagnosis and genetic counseling.
