NLRP2 Mutation and Beckwith-Wiedemann Syndrome
Author Information
Author(s): Meyer Esther, Lim Derek, Pasha Shanaz, Tee Louise J., Rahman Fatimah, Yates John R. W., Woods C. Geoffrey, Reik Wolf, Maher Eamonn R.
Primary Institution: University of Birmingham
Hypothesis
NLRP2 has a previously unrecognised role in establishing or maintaining genomic imprinting in humans.
Conclusion
The study identifies a homozygous frameshift mutation in NLRP2 in a family with Beckwith-Wiedemann syndrome, suggesting its role in genomic imprinting.
Supporting Evidence
- The study reports a family with BWS and an IC2 epimutation.
- Genetic analysis revealed a homozygous frameshift mutation in NLRP2 in the mother.
- Previous studies linked NLRP7 mutations to familial hydatidiform mole, but this is the first report of NLRP2 mutation in human disease.
Takeaway
This study found a gene mutation in a family that causes a growth disorder in children, showing that this gene helps control how genes are turned on and off.
Methodology
The study involved genetic analysis of a consanguineous family and additional BWS families to identify mutations in NLRP2.
Limitations
The study primarily focused on a small number of families, which may limit the generalizability of the findings.
Participant Demographics
The family studied was of Pakistani origin, with two affected children and their parents.
Digital Object Identifier (DOI)
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