A novel mutation in the SLCO2A1 gene in a Chinese family with primary hypertrophic osteoarthropathy.
A novel mutation in the SLCO2A1 gene in a Chinese family with primary hypertrophic osteoarthropathy.
复制标题
DOI：
10.1016/j.gene.2013.03.047
复制
发表时间：
2013-05
期刊：
影响因子：
3.5
通讯作者：
Zeng Zhang;Jin-wei He;W. Fu;Chang-qing Zhang;Zhenlin Zhang
中科院分区：
文献类型：
--
作者：
Zeng Zhang;Jin-wei He;W. Fu;Chang-qing Zhang;Zhenlin Zhang
原发性肥大性骨关节病（PHO）是一种罕见的单基因疾病，非常类似继发于肺或其他病理的肥大性骨关节病。PHO的研究为了解肥大性骨关节病的发病机制和相关基因的功能提供了机会。PHO的特征是指杵状畸形、骨膜增生和厚皮症。已知有两个基因与PHO相关：SLCO 2A 1和HPGD。在此，我们在一名患有PHO的中国青年男性中发现了一个位于SLCO 2A 1内含子7供体位点恒定+1位置的重复杂合鸟嘌呤-腺嘌呤转换（c.940+1G>A）和一个位于外显子11的新杂合错义突变p.Asn534Lys（c.1602C>A）。PHO新基因型的鉴定将为PHO的表型-基因型关系提供线索，不仅有助于PHO的临床诊断，而且有助于解释用于产前诊断和遗传咨询的遗传信息。
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.