Key result
NGS identifies genetic causes in up to ~33% of children with idiopathic short stature.
Why the study?
New insights into the molecular pathogenesis of short stature are emerging as next-generation sequencing expands known genetic causes disrupting growth plates and the pituitary-insulin-like growth factor axis.
Exome sequencing is increasingly valuable for identifying the underlying genetic causes of primary growth impairment in children with idiopathic or familial short stature, which can help predict responsiveness to growth hormone therapy.
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NGS may refine evaluation of idiopathic short stature; leaves open routine adoption and treatment impact without prospective validation.
Yoo‐Mi Kim (2022) conducted a review in Short stature. Next-generation sequencing (NGS) / Exome sequencing was evaluated. Next-generation sequencing expands the identification of genetic causes of short stature, yielding a diagnostic rate of 16.5% to 33.3% in children with idiopathic short stature.
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