ArticleThe Journal of clinical endocrinology and metabolism2021
A High Proportion of Novel ACAN Mutations and Their Prevalence in a Large Cohort of Chinese Short Stature Children.
Article in The Journal of clinical endocrinology and metabolism, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers, 1 of them a synthesis that pooled it.
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Who cites it
27 citing papers in PubMed, 1 synthesis or guideline pooled it, 40 citations in OpenAlex.
- Research progress of short stature and advanced bone age, early-onset osteoarthritis and osteochondritis dissecans (SSOAOD) caused by acan gene mutation.Frontiers in endocrinology · 2026Pooled it
- Generation and Validation of an Acan-Cre Mouse Line to Selectively Label Class-B Excitatory Neurons of the Cerebellar Nuclei.Cerebellum (London, England) · 2026Article
- Phenotypic and genotypic diversity in patients with Chinese aggrecan gene-related short stature.Pediatric research · 2026Article
- Aggrecanopathy as an Underrecognized Cause of Idiopathic Short Stature: The Importance of Early Genetic Confirmation for Timely Diagnosis and Management-Case Reports and Literature Review.Diseases (Basel, Switzerland) · 2026Article
- Impact of Growth Hormone Treatment in Children From an Extended Family With ACAN -Related Short Stature.Clinical genetics · 2026Article
- Familial short stature: genetic architecture, risk stratification, and precision management.Frontiers in endocrinology · 2026Review
- Optimising diagnosis in children with short stature: an integrated clinical and NGS approach.Endocrine connections · 2025Article
- [Discussion on the genetic mechanisms and efficacy of growth hormone therapy in children with idiopathic short stature].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2024Review
- Treatment of Short Stature in Aggrecan-deficient Patients With Recombinant Human GH: 3-year Response.Journal of the Endocrine Society · 2024Article
- Role of genetic investigation in the diagnosis of short stature in a cohort of Italian children.Journal of endocrinological investigation · 2024Article
- Genotype and phenotype in patients with ACAN gene variants: Three cases and literature review.Molecular genetics & genomic medicine · 2024Review
- Identification of diagnostic markers for moyamoya disease by combining bulk RNA-sequencing analysis and machine learning.Scientific reports · 2024Article
- Aggrecan-related bone disorders; a novel heterozygous ACAN variant associated with spondyloepimetaphyseal dysplasia expanding the phenotypic spectrum and review of literature.Journal, genetic engineering & biotechnology · 2024Article
- The clinical and genetic aspects of six individuals withFrontiers in endocrinology · 2024Article
- Applications of genomic research in pediatric endocrine diseases.Clinical and experimental pediatrics · 2023Article
- Clinical and genetic evaluation of children with short stature of unknown origin.BMC medical genomics · 2023Article
- Novel pathogenic NPR2 variants in short stature patients and the therapeutic response to rhGH.Orphanet journal of rare diseases · 2023Article
- Case report: A novel heterozygous frameshift mutation ofFrontiers in genetics · 2023Article
- Treatment of Short Stature in Aggrecan-deficient Patients With Recombinant Human Growth Hormone: 1-Year Response.The Journal of clinical endocrinology and metabolism · 2022Article
- Novel missense ACAN gene variants linked to familial osteochondritis dissecans cluster in the C-terminal globular domain of aggrecan.Scientific reports · 2022Article
Corrections and comments
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Authors and funding
21 authors at 11 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
contextAggrecan, encoded by the ACAN gene, is the main proteoglycan component in the extracellular cartilage matrix. Heterozygous mutations in ACAN have been reported to cause idiopathic short stature. However, the prevalence of ACAN pathogenic variants in Chinese short stature patients and clinical phenotypes remain to be evaluated.
objectiveWe sought to determine the prevalence of ACAN pathogenic variants among Chinese short stature children and characterize the phenotypic spectrum and their responses to growth hormone therapies. PATIENTS AND
methodsOver 1000 unrelated short stature patients ascertained across China were genetically evaluated by next-generation sequencing-based test.
resultWe identified 10 novel likely pathogenic variants and 2 recurrent pathogenic variants in this cohort. None of ACAN mutation carriers exhibited significant dysmorphic features or skeletal abnormities. The prevalence of ACAN defect is estimated to be 1.2% in the whole cohort; it increased to 14.3% among those with advanced bone age and to 35.7% among those with both advanced bone age and family history of short stature. Nonetheless, 5 of 11 ACAN mutation carries had no advanced bone age. Two individuals received growth hormone therapy with variable levels of height SD score improvement.
conclusionOur data suggest that ACAN mutation is 1 of the common causes of Chinese pediatric short stature. Although it has a higher detection rate among short stature patients with advanced bone age and family history, part of affected probands presented with delayed bone age in Chinese short stature population. The growth hormone treatment was moderately effective for both individuals.
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