A novel mutation in the SLCO2A1 gene in a Chinese family with primary hypertrophic osteoarthropathy

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• 作者：Zeng Zhang^a ; ^b ; Jin-Wei He^a ; Wen-Zhen Fu^a ; Chang-Qing Zhang^b ; ^{zhangchangq@yahoo.com.cn} ; Zhen-Lin Zhang^a ; ^{zzl2002@medmail.com.cn}
• 关键词：HGMD ; Human Gene Mutation Database ; HPGD ; hydroxyprostaglandin dehydrogenase 15-(NAD) ; PCR ; polymerase chain reaction ; PGE2 ; prostaglandin E2 ; PGE-M ; prostaglandin E metabolite ; PGT ; prostaglandin transporter ; PHO ; primary hypertrophic osteoarthropathy ; S
• 刊名：Gene
• 出版年：2013
• 出版时间：25 May, 2013
• 年：2013
• 卷：521
• 期：1
• 页码：191-194
• 全文大小：642 K

文摘

Primary hypertrophic osteoarthropathy (PHO) is a rare monogenetic disease that closely mimics hypertrophic osteoarthropathy secondary to pulmonary or other pathology. The study of PHO provides an opportunity to understand both the pathogenesis of hypertrophic osteoarthropathy and the functions of the underlying genes. PHO is characterized by digital clubbing, periostosis and pachydermia. Two genes are known to be related to PHO: SLCO2A1 and HPGD. Here, we identified a recurrent heterozygous guanine-to-adenine transition at the invariant + 1 position of the donor site of intron 7 (c.940 + 1G > A) and a novel heterozygous missense mutation p.Asn534Lys (c.1602C > A) in exon 11 of SLCO2A1 in a Chinese young man with PHO. Identification of a novel genotype in PHO will provide clues to the phenotype-genotype relations and may assist not only in the clinical diagnosis of PHO but also in the interpretation of genetic information used for prenatal diagnosis and genetic counseling.