ACAN mutations as a cause of familial short stature

Aggrecan, encoded by ACAN, is a major proteoglycan component of the extracellular matrix in the growth plate and articular cartilage. Aggrecan provides the hydrated gel structure important for the load-bearing properties of joints and plays a key role in cartilage and bone morphogenesis. At least 25...

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Published inClinical Pediatric Endocrinology Vol. 26; no. 3; pp. 119 - 125
Main Author Dateki, Sumito
Format Journal Article
LanguageEnglish
Published Japan The Japanese Society for Pediatric Endocrinology 01.01.2017
Subjects
ACAN
aggrecan
bone age
disc herniation
Review
short stature
aggrecan
bone age
ACAN
short stature
disc herniation
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Summary:Aggrecan, encoded by ACAN, is a major proteoglycan component of the extracellular matrix in the growth plate and articular cartilage. Aggrecan provides the hydrated gel structure important for the load-bearing properties of joints and plays a key role in cartilage and bone morphogenesis. At least 25 pathological ACAN mutations have been identified in patients with highly variable phenotypes of syndromic or non-syndromic short stature. This review provides an overview of the current understanding of ACAN and the clinical and genetic findings concerning aggrecan-associated diseases.
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ISSN:0918-5739
1347-7358
DOI:10.1297/cpe.26.119