1. High frequency of GJA12/GJC2 mutations in Turkish patients with Pelizaeus-Merzbacher disease
- Author
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Burcak Ozes, Birdal Bilir, James R. Lupski, Claudia M.B. Carvalho, Mefkure Eraksoy, Cengiz Yalcinkaya, Zuhal Yapici, Ibrahim Baris, Magdalena Bartnik, and Esra Battaloglu
- 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 - 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.
- Published
- 2012