期刊
HUMAN GENETICS
卷 123, 期 3, 页码 237-245出版社
SPRINGER
DOI: 10.1007/s00439-008-0467-y
关键词
-
资金
- NIDA NIH HHS [T90 DA022881] Funding Source: Medline
- NIGMS NIH HHS [GM007839-26, T32 GM007839] Funding Source: Medline
- NINDS NIH HHS [R01 NS020013, K08-NS48174, F30 NS051962, K08 NS048174-05, K08 NS048174, F30-NS51962] Funding Source: Medline
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.
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据