Heterozygous mutations in the ACAN gene have been reported in individuals with short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans. We report a family with a phenotypic constellation carrying a novel mutation in the ACAN gene. The proband was a 7-year-old Japanese girl with short stature. Her mother and maternal grandmother also had short stature and intervertebral disc disease. We analyzed the ACAN gene in the family and identified a novel heterozygous mutation: c.4634delT, Leu1545Profs*11.

中文翻译：

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常染色体显性遗传矮身和椎间盘疾病家族中ACAN基因的新突变

据报道，身高矮小，骨龄高，有或没有早发性骨关节炎和/或剥离性骨软骨炎的个体中，ACAN基因的杂合突变。我们报告一个家庭与ACAN基因中携带一个新型突变的表型星座。该先证者是一个7岁的日本女孩，身材矮小。她的母亲和外婆也身材矮小，椎间盘疾病。我们分析了该家族中的ACAN基因，并确定了一个新的杂合突变：c.4634delT，Leu1545Profs * 11。