Distinguishing Genetic Alterations Versus (Epi)Mutations in Silver–Russell Syndrome and Focus on the IGF1R Gene
An erratum to this article was published (J Clin Endocrinol Metab, 17 Mar 2025 ↗)
Authors' conclusion
Our study explores the frequency of genetic SRS, underscores body asymmetry as a distinctive phenotype in (epi)genetic SRS and suggests IGF1R sequencing in a SRS diagnostic flowchart.
Study context
- Population
- Clinically suspected Silver-Russell Syndrome (SRS) patients (Netchine-Harbison Clinical Scoring System (NH-CSS) ≥ 4) without (epi)genetic deregulations
- Participants
- 132 participants
- Exposure
- Genetic vs genetic SRS
- Whole-exomen = 15
- Targetedn = 117
- Outcome
- Frequency of genetic variants in undiagnosed SRS patients
Methodological detailswhole-exome and targeted sequencing, literature comparison
- Whole-exome and targeted sequencing
- Literature comparison
Main finding
As reported in the abstract
Pathogenic variants
Pathogenic variants identified in cohort
9.1%
Pathogenic variants in IGF2, PLAG1 and HMGA2
3%
Pathogenic variants in IGF1R (IGF-1 resistance, an SRS differential diagnosis)
3%
IGF2-PLAG1-HMGA2 and IGF1R share of SRS with NH-CSS ≥ 4
3.6%
Observational data: associations, not effects.
Further findings
Clinical comparison of (epi)genetic vs genetic SRS
- Body asymmetry and relative macrocephaly prevalent in mosaic (epi)genetic SRS; recurrence of familial cases in genetic SRS
- Overlapping features in (epi)genetic SRS and IGF-1 resistance patients
Original publication
Distinguishing Genetic Alterations Versus (Epi)Mutations in Silver–Russell Syndrome and Focus on the IGF1R Gene. J Clin Endocrinol Metab. Published 16 October 2024. doi:10.
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