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Biallelic mutations in PIGP cause developmental and epileptic encephalopathy
Martin Krenn1,2, Alexej Knaus3, Dominik S Westphal2,4
1Department of Neurology Medical University of Vienna Vienna Austria.
Annals of Clinical and Translational Neurology
|May 30, 2019
Summary
Genetic defects in PIGP cause developmental and epileptic encephalopathy, characterized by infantile seizures and developmental delay. This study identifies a new family with PIGP mutations, confirming its role in this severe neurological disorder.
Area of Science:
- Genetics
- Neuroscience
- Biochemistry
Background:
- Developmental and epileptic encephalopathies present with infantile seizures and psychomotor delay.
- Defects in glycosylphosphatidylinositol (GPI) biosynthesis are implicated in some cases.
- PIGP gene mutations have been previously linked to this condition.
Purpose of the Study:
- To report a second family with a PIGP mutation causing developmental and epileptic encephalopathy.
- To further establish PIGP as a causative gene for this neurological disorder.
Main Methods:
- Genetic analysis to identify mutations in PIGP.
- Phenotypic characterization of affected individuals.
- Flow cytometry to assess GPI-anchored protein expression.
Main Results:
- A homozygous frameshift mutation (c.456delA;p.Glu153Asnfs*34) in PIGP was identified in the affected family.
- Patients exhibited a phenotype overlapping with previously reported cases.
- Reduced expression of GPI-anchored proteins was confirmed in patient granulocytes.
Conclusions:
- PIGP is a monogenic disease gene for developmental and epileptic encephalopathy.
- The findings reinforce the link between GPI biosynthesis defects and severe neurological impairment.
- Further research into PIGP function and related pathways is warranted.
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