ArticleBMC medical genetics2018
Pathogenic gene screening in 91 Chinese patients with short stature of unknown etiology with a targeted next-generation sequencing panel.
Article in BMC medical genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers, 1 of them a synthesis that pooled it.
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Who cites it
19 citing papers in PubMed, 1 synthesis or guideline pooled it, 25 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
- Beyond osteopoikilosis: a blended skeletal dysplasia associated with dualJCEM case reports · 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
- Genotype-Phenotype Analysis and New Clinical Findings in a Series of 24 Patients Presenting with Noonan Syndrome and Related Disorders.Molecular syndromology · 2026Article
- 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
- Article
- Genetic evaluation using next-generation sequencing of children with short stature: a single tertiary-center experience.Annals of pediatric endocrinology & metabolism · 2024Article
- Growth Hormone Treatment for Non-GHD Disorders: Excitement Tempered by Biology.The Journal of clinical endocrinology and metabolism · 2024Review
- Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology · 2024Article
- Diagnostic yield of a multigene sequencing approach in children classified as idiopathic short stature.Endocrine connections · 2022Article
- A Genetic Approach in the Evaluation of Short Stature.The Eurasian journal of medicine · 2022Article
- Description of the molecular and phenotypic spectrum in Chinese patients with aggrecan deficiency: NovelFrontiers in endocrinology · 2022Review
- 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
- Case report of the first molecular diagnosis of Stickler syndrome with a pathogenic COL2A1 variant in a Mongolia family.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
- Focused Revision: ACMG practice resource: Genetic evaluation of short stature.Genetics in medicine : official journal of the American College of Medical Genetics · 2021Article
- Hsa_circularRNA_0079201 suppresses chondrocyte proliferation and endochondral ossification by regulating the microRNA‑140‑3p/SMAD2 signaling pathway in idiopathic short stature.International journal of molecular medicine · 2020Article
Corrections and comments
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Authors and funding
12 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundDwarfism is a common severe growth disorder, but the etiology is unclear in the majority of cases. Recombinant human growth hormone may be a treatment option, but it has limited efficacy. The currently known laboratory assays do not meet the precision requirements for clinical diagnosis. Here, we have constructed a targeted next-generation sequencing (NGS) panel of selected genes that are suspected to be associated with dwarfism for genetic screening.
methodsGenetic screening of 91 children with short stature of unknown etiology was performed with the help of the NGS panel. All the coding regions and exon-intron boundaries of 166 genes were included in the panel. To clarify the pathogenicity of these mutations, their clinical data were reviewed and analyzed.
resultsThe assay identified p.A72G, p.I282V, and p.P491S variants of the PTPN11 gene and a p.I437T variant of the SOS1 gene in 4 cases with Noonan syndrome. A frameshift mutation (p.D2407fs) of the ACAN gene was identified in a case of idiopathic short stature with moderately advanced bone age. A p.R904C variant of the COL2A1 gene was found in a patient, who was accordingly diagnosed with Stickler syndrome. Severe short stature without limb deformity was associated with a p.G11A variant of HOXD13. In addition, we evaluated evidence that a p.D401N variant of the COMP gene may cause multiple epiphyseal dysplasia.
conclusionsOur findings suggest that syndromes, particularly Noonan syndrome, may be overlooked due to atypical clinical features. This gene panel has been verified to be effective for the rapid screening of genetic etiologies associated with short stature and for guiding precision medicine-based clinical management.
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