Chen Xiao-Jun, Zhang Hong, Tan Zhi-Ping, Hu Wen, Yang Yi-Feng
Department of Nephrology, The Second Xiangya Hospital, Central South University, Changsha, Hunan 410011, P.R. China.
Department of Cardiovascular Surgery, The Second Xiangya Hospital, Central South University, Changsha, Hunan 410011, P.R. China.
Mol Med Rep. 2016 Nov;14(5):4687-4691. doi: 10.3892/mmr.2016.5814. Epub 2016 Oct 6.
Multiple osteochondromas (MO), also known as hereditary multiple exostoses, is an autosomal dominant bone disorder. Mutations in exostosin glycosyl transferase‑1 (EXT1) and exostosin glycosyl transferase‑2 (EXT2), including missense, nonsense, frameshift and splice‑site mutations, account for up to 80% of reported cases. The proteins EXT1 and EXT2 form a hetero‑oligomeric complex that functions in heparan sulfate proteoglycan biosynthesis. A heterozygous EXT2 mutation, c.939+1G>T, was identified in a five‑generation 33‑member MO family, and was present in all 13 affected members. The mutation results in deletion of exon 5 in the mRNA, producing a frameshift that leads to a premature termination codon. The present study extends the mutational spectrum of EXT2.
多发性骨软骨瘤（MO），也称为遗传性多发性外生骨疣，是一种常染色体显性遗传性骨疾病。外生骨疣糖基转移酶-1（EXT1）和外生骨疣糖基转移酶-2（EXT2）的突变，包括错义突变、无义突变、移码突变和剪接位点突变，在已报道病例中占比高达80%。EXT1和EXT2蛋白形成一种异源寡聚复合物，在硫酸乙酰肝素蛋白聚糖生物合成中发挥作用。在一个五代33名成员的MO家族中鉴定出一个杂合的EXT2突变，即c.939+1G>T，且该突变存在于所有13名患病成员中。该突变导致mRNA中外显子5缺失，产生移码，导致提前出现终止密码子。本研究扩展了EXT2的突变谱。
