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Hum Genet ; 123(3): 237-45, 2008 Apr.
Article in English | MEDLINE | ID: mdl-18204864

ABSTRACT

We previously reported a Vietnamese-American family with isolated autosomal dominant occipital cephalocele. Upon further neuroimaging studies, we have recharacterized this condition as autosomal dominant Dandy-Walker with occipital cephalocele (ADDWOC). A similar ADDWOC family from Brazil was also recently described. To determine the genetic etiology of ADDWOC, we performed genome-wide linkage analysis on members of the Vietnamese-American and Brazilian pedigrees. Linkage analysis of the Vietnamese-American family identified the ADDWOC causative locus on chromosome 2q36.1 with a multipoint parametric LOD score of 3.3, while haplotype analysis refined the locus to 1.1 Mb. Sequencing of the five known genes in this locus did not identify any protein-altering mutations. However, a terminal deletion of chromosome 2 in a patient with an isolated case of Dandy-Walker malformation also encompassed the 2q36.1 chromosomal region. The Brazilian pedigree did not show linkage to this 2q36.1 region. Taken together, these results demonstrate a locus for ADDWOC on 2q36.1 and also suggest locus heterogeneity for ADDWOC.


Subject(s)
Chromosomes, Human, Pair 2/genetics , Dandy-Walker Syndrome/genetics , Encephalocele/genetics , Genetic Heterogeneity , Genetic Linkage/genetics , Occipital Bone/abnormalities , Polymorphism, Single Nucleotide/genetics , Child, Preschool , Chromosome Deletion , Dandy-Walker Syndrome/complications , Encephalocele/complications , Female , Genes, Dominant , Genome, Human , Genotype , Humans , In Situ Hybridization, Fluorescence , Male , Nucleic Acid Hybridization , Pedigree
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