Uchida Noboru, Shibata Hironori, Nishimura Gen, Hasegawa Tomonobu
Department of Pediatrics, Keio University School of Medicine, 35 Shinanomachi, Shinjuku-ku, Tokyo, Japan.
Center for Intractable Diseases, Saitama Medical University Hospital, 38 Morohongo, Moroyama-machi, Iruma-gun, Saitama, Japan.
Hum Genome Var. 2020 Dec 3;7(1):44. doi: 10.1038/s41439-020-00132-8.
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.
据报道，ACAN基因杂合突变存在于身材矮小且骨龄提前的个体中，这些个体伴有或不伴有早发性骨关节炎和/或剥脱性骨软骨炎。我们报告了一个具有表型特征的家族，该家族携带ACAN基因的一种新突变。先证者是一名7岁的日本矮小身材女孩。她的母亲和外祖母也有身材矮小和椎间盘疾病。我们对该家族的ACAN基因进行了分析，发现了一种新的杂合突变：c.4634delT，Leu1545Profs*11。
