ArticleEuropean journal of endocrinology2020
High frequency of pathogenic ACAN variants including an intragenic deletion in selected individuals with short stature.
Article in European journal of endocrinology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
21 citing papers in PubMed, 28 citations in OpenAlex.
- Structural variants contribute substantially to complex trait heritability.Research square · 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
- Familial short stature: genetic architecture, risk stratification, and precision management.Frontiers in endocrinology · 2026Review
- Expanding the molecular spectrum of aggrecanopathies: exploring 24 patients with ACAN significant variants.European journal of human genetics : EJHG · 2025Article
- Genotype and phenotype in patients with ACAN gene variants: Three cases and literature review.Molecular genetics & genomic medicine · 2024Review
- A Case of Short Stature Caused by a Mutation in theMolecular syndromology · 2023Article
- Case report: A novel heterozygous frameshift mutation ofFrontiers in genetics · 2023Article
- A Novel HeterozygousJournal of clinical research in pediatric endocrinology · 2022Article
- Identification of variants in ACAN and PAPSS2 leading to spondyloepi(meta)physeal dysplasias in four Chinese families.Molecular genetics & genomic medicine · 2022Article
- A wide range of protective and predisposing variants in aggrecan influence the susceptibility for otosclerosis.Human genetics · 2022Article
- Short stature associated with a novel mutation in the aggrecan gene: A case report and literature review.World journal of clinical cases · 2022Article
- Novel missense ACAN gene variants linked to familial osteochondritis dissecans cluster in the C-terminal globular domain of aggrecan.Scientific reports · 2022Article
- Description of the molecular and phenotypic spectrum in Chinese patients with aggrecan deficiency: NovelFrontiers in endocrinology · 2022Review
- Evaluation of Growth Hormone Therapy in Seven Chinese Children With Familial Short Stature Caused by NovelFrontiers in pediatrics · 2022Article
- The Spectrum ofFrontiers in genetics · 2022Article
- Exploring and expanding the phenotype and genotype diversity in seven Chinese families with spondylo-epi-metaphyseal dysplasia.Frontiers in genetics · 2022Article
- Single-Cell Gene Expression Analysis in Patients with Medullary Sponge Kidney and a Retrospective Study.BioMed research international · 2022Article
- Identification of novel ACAN mutations in two Chinese families and genotype-phenotype correlation in patients with 74 pathogenic ACAN variations.Molecular genetics & genomic medicine · 2021Article
- A High Proportion of Novel ACAN Mutations and Their Prevalence in a Large Cohort of Chinese Short Stature Children.The Journal of clinical endocrinology and metabolism · 2021Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
11 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
contextDefining the underlying etiology of idiopathic short stature (ISS) improves the overall management of an individual.
objectiveTo assess the frequency of pathogenic ACAN variants in selected individuals.
designThe single-center cohort study was conducted at a tertiary university children's hospital. From 51 unrelated patients with ISS, the 16 probands aged between 3 and 18 years (12 females) with advanced bone age and/or autosomal dominant inheritance pattern of short stature were selected for the study. Fifteen family members of ACAN-positive probands were included. Exome sequencing was performed in all probands, and additional copy number variation (CNV) detection was applied in selected probands with a distinct ACAN-associated phenotype.
resultsSystematic phenotyping of the study cohort yielded 37.5% (6/16) ACAN-positive probands, with all novel pathogenic variants, including a 6.082 kb large intragenic deletion, detected by array comparative genomic hybridization (array CGH) and exome data analysis. All variants were co-segregated with short stature phenotype, except in one family member with the intragenic deletion who had an unexpected growth pattern within the normal range (-0.5 SDS). One patient presented with otosclerosis, a sign not previously associated with aggrecanopathy.
conclusionsACAN pathogenic variants presented a common cause of familial ISS. The selection criteria used in our study were suggested for a personalized approach to genetic testing of the ACAN gene in clinical practice. Our results expanded the number of pathogenic ACAN variants, including the first intragenic deletion, and suggested CNV evaluation in patients with typical clinical features of aggrecanopathy as reasonable. Intra-familial phenotypic variability in growth patterns should be considered.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.