Key result
Genetic screening confirms ACAN mutations as a monogenic cause in ~1.4% of idiopathic short stature cases.
Why the study?
What is the prevalence of ACAN mutations in families with idiopathic short stature?
Cross-Sectional (n=428)
Yes
What is the prevalence of ACAN mutations in families with idiopathic short stature?
Heterozygous mutations in the ACAN gene are a notable cause of isolated and inherited idiopathic short stature, found in 1.4% of tested families.
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May inform targeted ACAN testing in idiopathic short stature families; leaves open precise prevalence and penetrance in larger prospective cohorts.
Hauer et al. (2017) conducted a cross-sectional in Idiopathic short stature (n=428). Heterozygous mutations in ACAN gene was evaluated on Prevalence of potential disease-causing mutations in the ACAN gene. Genetic screening of 428 families with idiopathic short stature identified heterozygous mutations in the ACAN gene in 1.4% of patients, confirming it as a major monogenic cause of the disorder.
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