title: High frequency of GJA12/GJC2 mutations in Turkish patients with Pelizaeus-Merzbacher disease.
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.
authors.affiliation: Department of Molecular Biology and Genetics, Bogazici University, Istanbul, Turkey.
authors.forename: B
authors.initials: B
authors.lastname: Bilir
authors.forename: Z
authors.initials: Z
authors.lastname: Yapici
authors.forename: C
authors.initials: C
authors.lastname: Yalcinkaya
authors.forename: I
authors.initials: I
authors.lastname: Baris
authors.forename: C M B
authors.initials: CM
authors.lastname: Carvalho
authors.forename: M
authors.initials: M
authors.lastname: Bartnik
authors.forename: B
authors.initials: B
authors.lastname: Ozes
authors.forename: M
authors.initials: M
authors.lastname: Eraksoy
authors.forename: J R
authors.initials: JR
authors.lastname: Lupski
authors.forename: E
authors.initials: E
authors.lastname: Battaloglu
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations; D055028:Comparative Genomic Hybridization; D017630:Connexins / Q000235:genetics*; D005260:Female; D015321:Gene Rearrangement / Q000235:genetics; D020022:Genetic Predisposition to Disease; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D009154:Mutation; D018991:Myelin Proteolipid Protein / Q000235:genetics*; D010375:Pedigree; D020371:Pelizaeus-Merzbacher Disease / Q000209:etiology / Q000235:genetics / Q000503:physiopathology; D014421:Turkey
chemical_list: D017630:Connexins; D018991:Myelin Proteolipid Protein; C472930:PLP1 protein, human; C427305:connexin 47