ArticleThe Journal of clinical endocrinology and metabolism2021
Familial Short Stature-A Novel Phenotype of Growth Plate Collagenopathies.
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 16 papers.
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Who cites it
16 citing papers in PubMed, 33 citations in OpenAlex.
- Prednisone, not vamorolone, suppresses novel serum bone and cartilage biomarkers associated with growth failure in children with Duchenne muscular dystrophy.Scientific reports · 2026Trial
- Emerging molecular mechanisms of the ECM-exosome growth-plate axis in idiopathic short stature.Frontiers in cell and developmental biology · 2026Review
- Clinical Features of Seven COL2A1 Variations in Chinese Children With Type II Collagen Disorders.Acta paediatrica (Oslo, Norway : 1992) · 2025Article
- Two cases of autosomal dominant familial short stature associated withTranslational pediatrics · 2025Article
- Genetic Findings in Short Turkish Children Born to Consanguineous Parents.Hormone research in paediatrics · 2025Observational
- Etiology of combined pituitary hormone deficiency: GNAO1 as a novel candidate gene.Endocrine connections · 2024Article
- A novel compound heterozygous variant of the COL11A1 gene in a patient with fibrochondrogenesis type I: the first case in Korea.Annals of pediatric endocrinology & metabolism · 2024Article
- Monogenic causes of familial short stature.Frontiers in endocrinology · 2024Review
- Exploring the Genetic Causes for Postnatal Growth Failure in Children Born Non-Small for Gestational Age.Journal of clinical medicine · 2023Article
- Analysis of children with familial short stature: who should be indicated for genetic testing?Endocrine connections · 2023Article
- Diagnostic yield of a multigene sequencing approach in children classified as idiopathic short stature.Endocrine connections · 2022Article
- Novel Insights Into the Genetic Causes of Short Stature in Children.TouchREVIEWS in endocrinology · 2022Review
- Isolated growth hormone deficiency in children with vertically transmitted short stature: What do the genes tell us?Frontiers in endocrinology · 2022Article
- Clinical Characteristics of Short-Stature Patients With Collagen Gene Mutation and the Therapeutic Response to rhGH.Frontiers in endocrinology · 2022Article
- Response to Letter to the Editor from Youn Hee Jee: "Familial Short Stature - A Novel Phenotype of Growth Plate Collagenopathies".The Journal of clinical endocrinology and metabolism · 2022Article
- Letter to the Editor From Jee: "Familial Short Stature-A Novel Phenotype of Growth Plate Collagenopathies".The Journal of clinical endocrinology and metabolism · 2022Article
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Authors and funding
12 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
contextCollagens are the most abundant proteins in the human body. In a growth plate, collagen types II, IX, X, and XI are present. Defects in collagen genes cause heterogeneous syndromic disorders frequently associated with short stature. Less is known about oligosymptomatic collagenopathies.
objectiveThis work aims to evaluate the frequency of collagenopathies in familial short stature (FSS) children and to describe their phenotype, including growth hormone (GH) treatment response.
methodsEighty-seven FSS children (pretreatment height ≤ -2 SD both in the patient and his or her shorter parent) treated with GH were included in the study. Next-generation sequencing was performed to search for variants in the COL2A1, COL9A1, COL9A2, COL9A3, COL10A1, COL11A1, and COL11A2 genes. The results were evaluated using American College of Medical Genetics and Genomics guidelines. The GH treatment response of affected children was retrospectively evaluated.
resultsA likely pathogenic variant in the collagen gene was found in 10 of 87 (11.5%) children. Detailed examination described mild asymmetry with shorter limbs and mild bone dysplasia signs in 2 of 10 and 4 of 10 affected children, respectively. Their growth velocity improved from a median of 5.3 cm/year to 8.7 cm/year after 1 year of treatment. Their height improved from a median of -3.1 SD to -2.6 SD and to -2.2 SD after 1 and 3 years of therapy, respectively. The final height reached by 4 of 10 children differed by -0.67 to +1.0 SD and -0.45 to +0.5 SD compared to their pretreatment height and their affected untreated parent's height, respectively.
conclusionOligosymptomatic collagenopathies are a frequent cause of FSS. The short-term response to GH treatment is promising.
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