Identification of a second genetic alteration in patients with SHOX deficiency individuals: a potential explanation for phenotype variability
Authors' conclusion
In conclusion, variants in genes related to the growth plate have a potential role as genetic modifiers of the phenotype in individuals with SHOX deficiency. In individuals with SHOX alterations restricted to the regulatory region, a second alteration could be critical to determine the penetrance and expression of the phenotype.
Study context
- Population
- Individuals with SHOX deficiency from 48 families48 families
- Participants
- 98 individuals
- Comparison
- SHOX alteration restricted to regulatory region vs alteration compromising SHOX coding region
- Outcome
- Potential genetic modifier variants
Methodological detailstargeted gene panel, family-based
- Targeted gene panel
- Family-based
Main finding
As reported in the abstract
Heterozygous variants in genes with potential modifier role
8 variants in 11 individuals from 9 families
Further findings
Prevalence of a second likely pathogenic variant
P = 0.04
Original publication
Identification of a second genetic alteration in patients with SHOX deficiency individuals: a potential explanation for phenotype variability. Eur J Endocrinol. Published 11 September 2023. doi:10.
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