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Article

Expanding the molecular spectrum of aggrecanopathies: exploring 24 patients with ACAN significant variants.

European journal of human genetics : EJHG - 1 Dec 2025

Trigui Melek, Pallares-Ruiz Nathalie, Geneviève David, Amouroux Cyril, Edouard Thomas, Sigaudy Sabine, Willems Marjolaine, Barat-Houari Mouna

Abstract excerpt

Short stature is a prevalent clinical manifestation in children. While certain causes of short stature can be readily identifiable through routine biological tests, often physicians struggle to ascertain any underlying pathogenic cause, resulting in the diagnosis of idiopathic short stature (ISS). Aggrecan, encoded by ACAN, plays a crucial role in cartilage function and bone growth. The aim of our study is to...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 40987814
DOI: 10.1038/s41431-025-01943-5
PMCID: PMC12669688

Genes

ACAN

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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Expanding the molecular spectrum of aggrecanopathies: exploring 24 patients with ACAN significant variants.PMID 40987814Read ↗

Genetic screening confirms heterozygous mutations in ACAN as a major cause of idiopathic short stature.Semantic proximity Read ↗

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High frequency of pathogenic ACAN variants including an intragenic deletion in selected individuals with short statureSemantic proximity Read ↗

Aggrecan Mutations in Nonfamilial Short Stature and Short Stature Without Accelerated Skeletal MaturationSemantic proximity Read ↗

A High Proportion of Novel ACAN Mutations and Their Prevalence in a Large Cohort of Chinese Short Stature Children.Semantic proximity Read ↗

Identification of novel ACAN mutations in two Chinese families and genotype-phenotype correlation in patients with 74 pathogenic ACAN variations.Semantic proximity Read ↗

Clinical Characterization of Patients With Autosomal Dominant Short Stature due to Aggrecan Mutations.Semantic proximity Read ↗

Case report: A novel heterozygous frameshift mutation of ACAN in a Chinese family with short stature and advanced bone ageSemantic proximity Read ↗

<i>ACAN</i> mutations as a cause of familial short statureSemantic proximity Read ↗

Idiopathic short stature due to novel heterozygous mutation of the aggrecan gene.Semantic proximity Read ↗

A Case of Short Stature Caused by a Mutation in the ACAN GeneSemantic proximity Read ↗

Identification of a novel heterozygous mutation of the Aggrecan gene in a family with idiopathic short stature and multiple intervertebral disc herniation.Semantic proximity Read ↗

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