Genetic Findings in Short Turkish Children Born to Consanguineous Parents
Authors' conclusion
Genetic testing in short children from consanguineous parents has a high diagnostic yield, especially in cases of severe GH deficiency or insensitivity, microcephaly, and syndromic short stature.
Study context
- Population
- Short Turkish children born to consanguineous parents (inclusion: short stature and parental consanguinity), 34 consanguineous families34 families
- Participants
- 42 children
- Exposure
- Group 1 vs Group 2a vs Group 2b vs Group 2c
- Group 1n = 18
- Group 2an = 11
- Group 2bn = 10
- Group 2cn = 3
- Outcome
- Families with (likely) pathogenic variants identified
Methodological detailsmulticentre, six referral centres of paediatric endocrinology
- Multicentre
- Six referral centres of paediatric endocrinology
Main finding
As reported in the abstract
| Group | Value | Genes |
|---|---|---|
| Group 1 | all 12 families | GHR, IGFALS, GH1, STAT5B |
| Group 2a | 9/12 families | PCNT, SMARCAL1, SRCAP, WDR4, GHSR |
| Group 2b | 5/9 families | TTC37, SCUBE3, NSD2, RABGAP1, 17p13.3 microdeletions |
Value
Group 1all 12 families
Group 2a9/12 families
Group 2b5/9 families
Genes
Group 1GHR, IGFALS, GH1, STAT5B
Group 2aPCNT, SMARCAL1, SRCAP, WDR4, GHSR
Group 2bTTC37, SCUBE3, NSD2, RABGAP1, 17p13.3 microdeletions
- Homozygous, compound heterozygous and heterozygous variants (patients)
- 21, 1, and 4
Observational data: associations, not effects.
Further findings
Zygosity of variants
- Homozygous variants
- 21 patients
- Compound heterozygous variants
- 1 patient
- Heterozygous variants
- 4 patients
Original publication
Genetic Findings in Short Turkish Children Born to Consanguineous Parents. Horm Res Paediatr. Published 5 June 2024. doi:10.
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