A novel mutation in the ACAN gene in a family with autosomal dominant short stature and intervertebral disc disease

Noboru Uchida; Hironori Shibata; Gen Nishimura; Tomonobu Hasegawa

doi:10.1038/s41439-020-00132-8

A novel mutation in the ACAN gene in a family with autosomal dominant short stature and intervertebral disc disease

Noboru Uchida, Hironori Shibata, Gen Nishimura, Tomonobu Hasegawa

研究成果: Article › 査読

6 被引用数 (Scopus)

抄録

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.

本文言語	English
論文番号	44
ジャーナル	Human Genome Variation
巻	7
号	1
DOI	https://doi.org/10.1038/s41439-020-00132-8
出版ステータス	Published - 2020 12月
外部発表	はい

ASJC Scopus subject areas

生化学
分子生物学
遺伝学

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10.1038/s41439-020-00132-8

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abstract = "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.",

author = "Noboru Uchida and Hironori Shibata and Gen Nishimura and Tomonobu Hasegawa",

note = "Funding Information: This study was partly supported by the Japan Agency for Medical Research and Development (AMED) (17bm0804012 h0001). Funding Information: T.H. has the following financial relationships to disclose: research funding from Novo Nordisk Pharma Ltd. and JCR Pharmaceuticals Co., Ltd. Publisher Copyright: {\textcopyright} 2020, The Author(s).",

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AU - Hasegawa, Tomonobu

N1 - Funding Information: This study was partly supported by the Japan Agency for Medical Research and Development (AMED) (17bm0804012 h0001). Funding Information: T.H. has the following financial relationships to disclose: research funding from Novo Nordisk Pharma Ltd. and JCR Pharmaceuticals Co., Ltd. Publisher Copyright: © 2020, The Author(s).

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N2 - 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.

AB - 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.

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A novel mutation in the ACAN gene in a family with autosomal dominant short stature and intervertebral disc disease

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