A novel GPR56 mutation causes bilateral frontoparietal polymicrogyria.
Rong Luo1, Hye Min Yang, Zhaohui Jin
1Division of Newborn Medicine, Department of Medicine, Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA.
Bilateral frontoparietal polymicrogyria, a brain malformation, is linked to GPR56 gene mutations. A novel E496K mutation impacts GPR56 protein expression, offering insights into this neurological disorder.
Area of Science:
- Neuroscience
- Genetics
- Developmental Biology
Background:
- Bilateral frontoparietal polymicrogyria (BFPP) is an inherited brain malformation characterized by abnormal cortical development.
- It presents with intellectual disability, motor delays, and seizures, linked to mutations in the GPR56 gene.
Observation:
- A novel missense mutation, E496K, in the GPR56 gene was identified in a family with BFPP.
- This mutation is located in the GPR56(C) fragment of the GPR56 protein.
Findings:
- The E496K mutation impairs the cell surface expression of the GPR56(C) fragment.
- This effect on protein expression is similar to that of a previously identified mutation, R565W.
Implications:
- Understanding how GPR56 mutations affect protein function provides crucial insights into the pathogenesis of BFPP.
- This research contributes to the genetic basis of human brain malformations and associated neurological deficits.
More Related Videos
08:04Identification and Classification of Position-specific GABAA Receptor Subunit Missense Variants for Their Role In Hippocampal Pyramidal Neurons
Published on: June 6, 2025
09:34Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018