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

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.

SUBMITTER: Uchida N

PROVIDER: S-EPMC7712780 | biostudies-literature | 2020 Dec

REPOSITORIES: biostudies-literature

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

Uchida Noboru N Shibata Hironori H Nishimura Gen G Hasegawa Tomonobu T

Human genome variation 20201203 1

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 ...[more]

PMID: 33298914

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