蛋白聚糖型脊柱骨骺干骺端发育不良1例报告

Aggrecan type spondylometaphyseal dysplasia:one rare case report

目的探讨ACAN基因突变引起的常染色体隐性遗传疾病蛋白聚糖型脊柱骨骺干骺端发育不良(SEMD)的临床和基因诊断。方法回顾分析1例SEMD患儿的临床资料和基因检测结果,并复习相关文献。结果 7岁矮小女性患儿,排除生长激素缺乏症、特发性矮小、甲状腺功能低下等常见矮小病因后,结合家族史及临床表现,高度疑似SEMD。经知情同意后,患儿经高通量测序基因检测,证实为ACAN基因c.512C>T纯合突变,符合蛋白聚糖型SEMD诊断;父母特定位点基因分析,均为杂合子。结论临床上特殊类型矮小患儿高度怀疑SEMD时,应尽早行基因检测以明确诊断。

Objectives To analyze a rare autosomal recessive disease, aggrecan type spondylometaphyseal dysplasia （SEMD）, which was caused by ACAN gene mutations. Methods A 7 years old girl was diagnosed with short stature after excluding growth hormone deficiency, idiopathic short stature, and hypothyroidism. Combining family history and clinical features, SEMD were suspected and genetic tests were performed. Results The patient was found with homozygous mutations of c.512C 〉 T in ACAN gene, and was diagnosed with aggrecan type SEMD. Her parents were found to be heterozygous mutation carrier. Conclusions In patients with high suspection of a special type of short stature, early genetic tests should be carried out for a clear diagnosis.