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Article

A rare case of skeletal dysplasia: biallelic variant in ACAN gene.

Journal of pediatric endocrinology & metabolism : JPEM - 17 Dec 2024

Arslan Gülçin, Hazan Filiz, Tabanlı Gülin, Kırkgöz Tarık, Özkan Behzat

Abstract excerpt

OBJECTIVES: Spondylo-epimetaphyseal dysplasia-aggregan (SEMD-ACAN) is a rare form of osteo-chondrodysplasia that includes vertebral, epiphyseal and metaphyseal dysplasia. It occurs as a result of loss-of-function mutations in the ACAN gene, which encodes aggregan protein, which is the basic component of the extracellular matrix in cartilage. It results in disproportionately short stature and skeletal...

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PMID: 39295451
DOI: 10.1515/jpem-2024-0255

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