Multiple osteochondromas (MO) is an autosomal dominant hereditary disorder, which typically manifests as skeletal dysplasia, mainly involving long bones and knees, ankles, elbows, wrists, shoulders, and pelvis. Previous studies have demonstrated that mutations in exostosin glycosyl transferase-1 (EXT1) and exostosin glycosyl transferase-2 (EXT2) were the main cause of MO. In this study, we enrolled 2 families with MO. Sanger sequencing revealed 2 novel frameshift mutations – c.1432_1433insCCCCCCT; p.Lys479Profs*44 and c.1431_1431delC; p.S478PfsX10 – in the EXT1 gene detected in 2 families, respectively. Both novel mutations, located in the conserved domain of EXT1 and predicted to be disease causing by informatics programs, were absent in our 200 control cohorts and other public databases. Our study expanded the spectrum of EXT1 mutations and contributed to genetic diagnosis and counseling of patients with MO.
Mol Syndromol

中文翻译：

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鉴定两个多发性骨软骨瘤家族中外骨素 1 中两个新的移码突变

多发性骨软骨瘤（MO）是一种常染色体显性遗传性疾病，通常表现为骨骼发育不良，主要累及长骨和膝、踝、肘、腕、肩和骨盆。以往的研究表明，外泌素糖基转移酶-1（EXT1）和外泌素糖基转移酶-2（EXT2）的突变是MO的主要原因。在这项研究中，我们招募了 2 个患有 MO 的家庭。Sanger 测序揭示了 2 个新的移码突变——c.1432_1433insCCCCCCT；p.Lys479Profs*44 和 c.1431_1431delC；p.S478PfsX10 – 在EXT1分别在2个家系中检测到基因。在我们的 200 个对照队列和其他公共数据库中，两种位于 EXT1 保守域中并预测为由信息学程序引起的疾病的新突变均不存在。我们的研究扩大了EXT1突变的范围，并有助于 MO 患者的基因诊断和咨询。
摩尔综合征