Novel Insights: A Novel PHIP Variant in a Family with Severe Early-Onset Obesity
Authors' conclusion
Early-onset obesity may be monogenic. Our finding expands the spectrum of disease-causing variants in PHIP and demonstrates variable intrafamilial clinical expressivity and severity. Screening for PHIP variants should be included in genetic testing in patients with severe early-onset obesity.
Study context
- Population
- 5-year-old boy with severe obesity since 1 year of age, developmental delay, facial dysmorphism and behavior problems, and his brother and motherindex patient, brother, mother
- Outcome
- PHIP variant
Methodological detailsfamily, whole-exome sequencing, family segregation analysis
- Family
- Whole-exome sequencing
- Family segregation analysis
Main finding
As reported in the abstract
Novel missense variant in PHIP identified by whole-exome sequencing in the index patient
c.3182C>A, p.Ala1061Glu
Original publication
Novel Insights: A Novel PHIP Variant in a Family with Severe Early-Onset Obesity. Horm Res Paediatr. Published 22 October 2024. doi:10.
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