ArticleJournal of human genetics2017
Identification of a novel heterozygous mutation of the Aggrecan gene in a family with idiopathic short stature and multiple intervertebral disc herniation.
Article in Journal of human genetics, 2017. 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.
What it found
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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.
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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.
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Who cites it
27 citing papers in PubMed, 1 synthesis or guideline pooled it, 36 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
- Article
- 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
- Comprehensive in silico analysis of genetic landscape and pathways involved in Stickler syndrome.PloS one · 2026Article
- Genotype and phenotype in patients with ACAN gene variants: Three cases and literature review.Molecular genetics & genomic medicine · 2024Review
- Proteoglycan Dysfunction: A Common Link Between Intervertebral Disc Degeneration and Skeletal Dysplasia.Neurospine · 2024Article
- Special clinical entity with 15q26 deletion: a novel case report.Journal of genetics · 2024Article
- A Case of Short Stature Caused by a Mutation in theMolecular syndromology · 2023Article
- Aggrecan governs intervertebral discs development by providing critical mechanical cues of the extracellular matrix.Frontiers in bioengineering and biotechnology · 2023Article
- LCN2 is a new diagnostic biomarker and potential therapeutic target in idiopathic short stature.Journal of cellular and molecular medicine · 2022Article
- Short stature associated with a novel mutation in the aggrecan gene: A case report and literature review.World journal of clinical cases · 2022Article
- Evaluation of Growth Hormone Therapy in Seven Chinese Children With Familial Short Stature Caused by NovelFrontiers in pediatrics · 2022Article
- Variable expressivity in a family with an aggrecanopathy.Molecular genetics & genomic medicine · 2022Article
- The Spectrum ofFrontiers in genetics · 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 Novel Diagnostic Predictive Model for Idiopathic Short Stature in Children.Frontiers in endocrinology · 2021Article
- Retrospective Diagnosis of a NovelFrontiers in genetics · 2021Article
- Growth plate gene involment and isolated short stature.Endocrine · 2021Review
- Identification of a heterozygous ACAN mutation in a 15-year-old boy with short stature who presented with advanced bone age: a case report and review of the literature.Annals of pediatric endocrinology & metabolism · 2020Article
- Aggrecan in Cardiovascular Development and Disease.The journal of histochemistry and cytochemistry : official journal of the Histochemistry Society · 2020Review
Corrections and comments
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Authors and funding
8 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Aggrecan is a critical proteoglycan component of the extracellular matrix of the growth plates and articular cartilage and has a key role in the biophysical and biomechanical properties of cartilage. Recently, heterozygous mutations in the ACAN gene, which encodes aggrecan, have been identified in patients with short stature and accelerated bone age. We herein report another family with a heterozygous ACAN mutation associated with idiopathic short stature along with accelerated bone age and early-onset herniation of the lumbar discs at the levels of L1/2 through L5/S1. Whole-exome sequencing identified a novel heterozygous frameshift mutation in the ACAN gene (c.1744delT; p.Phe582fs*69) in all of the affected family members but not in the unaffected one, providing further evidence that ACAN haploinsufficiency causes short stature with advanced bone maturation. In addition, we advocate early-onset multiple disc herniation as a novel phenotype associated with ACAN haploinsufficiency.
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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.