{"database":"biostudies-literature","file_versions":[],"scores":{"citationCount":0,"reanalysisCount":0,"viewCount":52,"searchCount":0},"additional":{"submitter":["Jalali A"],"funding":["NIDA NIH HHS","NINDS NIH HHS","NIGMS NIH HHS"],"pagination":["237-45"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC2822644"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["123(3)"],"pubmed_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."],"journal":["Human genetics"],"pubmed_title":["Linkage to chromosome 2q36.1 in autosomal dominant Dandy-Walker malformation with occipital cephalocele and evidence for genetic heterogeneity."],"pmcid":["PMC2822644"],"funding_grant_id":["K08 NS048174","K08 NS048174-05","T32 GM007839","R01 NS020013","F30-NS51962","GM007839-26","K08-NS48174","F30 NS051962","T90 DA022881"],"pubmed_authors":["Jalali A","Chary A","Ouahchi K","Le LC","Millen KJ","Jardine P","Pina-Neto JM","Nguyen P","Dobyns WB","Newbury-Ecob R","Curran J","Lee C","Bassuk AG","Mallick A","Aldinger KA","Jafari N","McLone DG","Bowman RM","Russell EJ","Kessler JA"],"view_count":["52"],"additional_accession":[]},"is_claimable":false,"name":"Linkage to chromosome 2q36.1 in autosomal dominant Dandy-Walker malformation with occipital cephalocele and evidence for genetic heterogeneity.","description":"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.","dates":{"release":"2008-01-01T00:00:00Z","publication":"2008 Apr","modification":"2024-11-21T03:08:05.685Z","creation":"2019-03-27T00:28:36Z"},"accession":"S-EPMC2822644","cross_references":{"pubmed":["18204864"],"doi":["10.1007/s00439-008-0467-y"]}}