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Epistasis

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In addition to multiple alleles at the same locus influencing traits, numerous genes or alleles at different locations may interact and influence phenotypes in a phenomenon called epistasis. For example, rabbit fur can be black or brown depending on whether the animal is homozygous dominant or heterozygous at a TYRP1 locus. However, if the rabbit is also homozygous recessive at a locus on the tyrosinase gene (TYR), it will have an unshaded coat that appears white, regardless of its TYRP1...

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Although Mendel chose seven unrelated traits in peas to study gene segregation, most traits involve multiple gene interactions that create a spectrum of phenotypes. When the interaction of various genes or alleles at different locations influences a phenotype, this is called epistasis. Epistasis often involves one gene masking or interfering with the expression of another (antagonistic epistasis). Epistasis often occurs when different genes are part of the same biochemical pathway. The...

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Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

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PRRT2 mutations: exploring the phenotypical boundaries.

Tania Djémié¹, Sarah Weckhuysen, Philip Holmgren

¹Neurogenetics Group, Department of Molecular Genetics, VIB, , Antwerp, Belgium.

Journal of Neurology, Neurosurgery, and Psychiatry

|October 9, 2013

Summary

PRRT2 gene mutations are linked to benign infantile convulsions, infantile convulsions with choreoathetosis, and paroxysmal dyskinesias. These mutations do not appear to cause febrile seizures or infantile epileptic encephalopathies.

Keywords:

CLINICAL NEUROLOGY EPILEPSY GENETICS NEUROGENETICS

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Area of Science:

Genetics
Neurology
Molecular Biology

Background:

Mutations in the proline-rich transmembrane protein 2 (PRRT2) gene are associated with benign (familial) infantile convulsions (B(F)IC), infantile convulsions with choreoathetosis (ICCA), and paroxysmal dyskinesias (PDs).
The role of PRRT2 mutations in other epilepsy syndromes remains unclear.
A PRRT2 mutation was identified in a family with ICCA, including individuals with febrile seizures (FS) and West syndrome.

Purpose of the Study:

To investigate the role of PRRT2 mutations in a diverse group of infantile epilepsy syndromes.
To determine if PRRT2 mutations are causal in conditions beyond B(F)IC, ICCA, and PDs.

Main Methods:

Screening of 460 patients with B(F)IC, ICCA, fever-related seizures, or infantile epileptic encephalopathies.
Direct sequencing was used to test for point mutations in the PRRT2 gene.

Main Results:

Heterozygous PRRT2 mutations were identified in 16 individuals (10 familial, 6 sporadic).
All identified mutation carriers were diagnosed with B(F)IC, ICCA, or PD.
No PRRT2 mutations were detected in other epilepsy syndromes.
Some mutation carriers exhibited later-onset learning disabilities and impaired fine motor skills.

Conclusions:

PRRT2 mutations are not implicated in the etiology of febrile seizures or infantile epileptic encephalopathies.
B(F)IC, ICCA, and PD remain the primary phenotypes associated with PRRT2 mutations.
Further clinical research is warranted to explore the developmental aspects, including learning disabilities and neuropsychiatric issues, in PRRT2 mutation carriers.