Diagnostic yield of genetic testing in children with short stature: a systematic review
Authors' conclusion
Genetic testing substantially improves the diagnostic process in children with isolated and syndromic short stature. Diagnostic yield varies by testing modality and phenotype, with higher rates observed using comprehensive genomic methods and in individuals with dysmorphic or syndromic features. Frequently implicated genes highlight common biological pathways involved in growth regulation, underscoring the utility of genetic evaluation in this population.
Study context
- Population
- Children with short stature134 studies
- Participants
- 78 / 8 / 14 / 39
- Comparison
- Diagnostic yield by genetic testing modality: candidate gene testing vs chromosomal microarray vs gene panels vs exome sequencing
- Candidate gene testingn = 78
- Chromosomal microarrayn = 8
- Gene panelsn = 14
- Exome sequencing (ES)n = 39
- Outcome
- Diagnostic yield of genetic testing
Pooled result
As reported in the abstract
Further pooled results
Diagnostic yield after exclusion of variants of uncertain significance (VUS)
- Reestimated yields were lower for all approaches
ES diagnostic yield by phenotype
- Syndromic short stature (n = 15 studies)
- 50.8%
- Isolated short stature (n = 13 studies)
- 15.1%
Phenotypic predictors of increased diagnostic yield (45 studies)
- Facial dysmorphism
- 68.2%
- Skeletal abnormalities
- 61.1%
- Most strongly associated with increased yield
Recurrently identified genes
- PTPN11, NF1, COL2A1, ACAN, FGFR3
Original publication
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