Identification of a novel heterozygous mutation of the Aggrecan gene in a family with idiopathic short stature and multiple intervertebral ... View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2017-03-23

AUTHORS

Sumito Dateki, Akiko Nakatomi, Satoshi Watanabe, Hitomi Shimizu, Yukiko Inoue, Hideo Baba, Koh-ichiro Yoshiura, Hiroyuki Moriuchi

ABSTRACT

Aggrecan is a critical proteoglycan component of the extracellular matrix of the growth plates and articular cartilage and has a key role in the biophysical and biomechanical properties of cartilage. Recently, heterozygous mutations in the ACAN gene, which encodes aggrecan, have been identified in patients with short stature and accelerated bone age. We herein report another family with a heterozygous ACAN mutation associated with idiopathic short stature along with accelerated bone age and early-onset herniation of the lumbar discs at the levels of L1/2 through L5/S1. Whole-exome sequencing identified a novel heterozygous frameshift mutation in the ACAN gene (c.1744delT; p.Phe582fs*69) in all of the affected family members but not in the unaffected one, providing further evidence that ACAN haploinsufficiency causes short stature with advanced bone maturation. In addition, we advocate early-onset multiple disc herniation as a novel phenotype associated with ACAN haploinsufficiency. More... »

PAGES

717-721

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/jhg.2017.33

DOI

http://dx.doi.org/10.1038/jhg.2017.33

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1084128237

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/28331218


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