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

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Article number44
JournalHuman Genome Variation
Volume7
Issue number1
DOIs
Publication statusPublished - 2020 Dec
Externally publishedYes

ASJC Scopus subject areas

  • Biochemistry
  • Molecular Biology
  • Genetics

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