Jin Ping, Zhang Qin, He Honghui, Zhu Weihao, Long Xiaodan, Mo Zhaohui
Department of Endorcrinology, Third Xiangya Hospital, Central South University, Changsha 410013, China.
Zhong Nan Da Xue Xue Bao Yi Xue Ban. 2018 Jan 28;43(1):100-105. doi: 10.11817/j.issn.1672-7347.2018.01.016.
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 exon-intron 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.
