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High frequency of GJA12/GJC2 mutations in Turkish patients with Pelizaeus-Merzbacher disease
- Source :
- Clinical genetics. 83(1)
- Publication Year :
- 2012
-
Abstract
- Pelizaeus-Merzbacher disease is an early onset dysmyelinating leukodystrophy. About 80% of PMD cases have been associated with duplications and mutations of the proteolipid protein 1 (PLP1) gene. Pelizaeus-Merzbacher-like disease is a genetically heterogeneous autosomal recessive disease and rarely caused by mutations in gap junction protein α12 (GJA12/GJC2) gene. The molecular basis of the disease was investigated in a cohort of 19 Turkish families. This study identified novel chromosomal rearrangements proximal and distal to, and exclusive of the PLP1 gene, showed equal frequencies of PLP1 and GJA12/GJC2 mutations at least in our cohort, and suggested further genetic heterogeneity.
- Subjects :
- Adult
Male
medicine.medical_specialty
Adolescent
Pelizaeus-Merzbacher Disease
Turkey
Turkish
Biology
Connexins
Article
GJC2
Genetics
medicine
Humans
Genetic Predisposition to Disease
Child
Myelin Proteolipid Protein
Genetics (clinical)
In Situ Hybridization, Fluorescence
Chromosome Aberrations
Gene Rearrangement
Comparative Genomic Hybridization
Molecular Diagnostic Testing
Pelizaeus–Merzbacher disease
Gene rearrangement
medicine.disease
Human genetics
language.human_language
Pedigree
Child, Preschool
Mutation
language
Medical genetics
Female
Comparative genomic hybridization
Subjects
Details
- ISSN :
- 13990004
- Volume :
- 83
- Issue :
- 1
- Database :
- OpenAIRE
- Journal :
- Clinical genetics
- Accession number :
- edsair.doi.dedup.....1e13559c488313436eea6caab75b3f37