A Novel ACAN Missense Variant in the G1 Domain Causes Short Stature, Advanced Bone Age, and Osteochondritis Dissecans: A Case Report and Literature Review.
Cuilan Lin, Dongxue Pan, Xin Lai et al.
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Case in brief
A 7-year-11-month-old Chinese girl presented with short stature and advanced bone age; knee imaging also showed asymptomatic osteochondritis dissecans. Targeted next-generation sequencing identified a heterozygous ACAN missense variant, c.547G>C, in the G1 domain. The variant was paternally inherited and classified as likely pathogenic under ACMG standards. Recombinant human growth hormone was followed by robust early catch-up growth, then reduced growth velocity. She remains under follow-up.
What made this case unusual
The combination of short stature and advanced bone age with asymptomatic knee osteochondritis dissecans accompanied a novel, paternally inherited ACAN missense variant in the G1 domain.
Diagnostic / clinical pearl
In a child with unexplained short stature and accelerated bone age, osteochondral lesions may be a clue to an ACAN-related disorder; genetic testing can help establish the diagnosis.
Why it matters
The authors support routine ACAN screening in children with unexplained short stature, accelerated bone age, and osteochondral lesions.