ArticleAnnals of pediatric endocrinology & metabolism2024
Genetic evaluation using next-generation sequencing of children with short stature: a single tertiary-center experience.
Article in Annals of pediatric endocrinology & metabolism, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed, 7 citations in OpenAlex.
- Body Composition Changes and Catch-up Growth in Pre-pubertal Children with Short Stature: A Longitudinal Retrospective Cross-sectional Cohort StudyJournal of clinical research in pediatric endocrinology · 2025Article
- Genetic Heterogeneity Underlying Familial Short Stature.Diagnostics (Basel, Switzerland) · 2025Article
- Comparison of children with bioinactive growth hormone, small for gestational age, and idiopathic short stature.Frontiers in endocrinology · 2025Article
- Unravelling short stature in pediatrics: the crucial role of genetic perspective.Translational pediatrics · 2024Article
- Commentary on "Genetic evaluation using next-generation sequencing of children with short stature: a single tertiary-center experience".Annals of pediatric endocrinology & metabolism · 2024Article
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5 authors at 2 institutions in 1 country.
Funding
Abstract
purposeWe used next-generation sequencing (NGS) to investigate the genetic causes of suspected genetic short stature in 37 patients, and we describe their phenotypes and various genetic spectra.
methodsWe reviewed the medical records of 50 patients who underwent genetic testing using NGS for suspected genetic short stature from June 2019 to December 2022. Patients with short stature caused by nongenetic factors or common chromosomal abnormalities were excluded. Thirty-seven patients from 35 families were enrolled in this study. We administered one of three genetic tests (2 targeted panel tests or whole exome sequencing) to patients according to their phenotypes.
resultsClinical and molecular diagnoses were confirmed in 15 of the 37 patients, for an overall diagnostic yield of 40.5%. Fifteen pathogenic/likely pathogenic variants were identified in 13 genes (ACAN, ANKRD11, ARID1B, CEP152, COL10A1, COL1A2, EXT1, FGFR3, NIPBL, NRAS, PTPN11, SHOX, SLC16A2). The diagnostic rate was highest in patients who were small for their gestational age (7 of 11, 63.6%).
conclusionGenetic evaluation using NGS can be helpful in patients with suspected genetic short stature who have clinical and genetic heterogeneity. Further studies are needed to develop patient selection algorithms and panels containing growth-related genes.
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