Linkage to chromosome 2q36.1 in autosomal dominant Dandy-Walker malformation with occipital cephalocele and evidence for genetic heterogeneity

Ali Jalali; Kimberly A Aldinger; Ajit Chary; David G Mclone; Robin M Bowman; Luan Cong Le; Phillip Jardine; Ruth Newbury-Ecob; Andrew Mallick; Nadereh Jafari; Eric J Russell; John Curran; Pam Nguyen; Karim Ouahchi; Charles Lee; William B Dobyns; Kathleen J Millen; Joao M Pina-Neto; John A Kessler; Alexander G Bassuk

doi:10.1007/s00439-008-0467-y

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Linkage to chromosome 2q36.1 in autosomal dominant Dandy-Walker malformation with occipital cephalocele and evidence for genetic heterogeneity

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Linkage to chromosome 2q36.1 in autosomal dominant Dandy-Walker malformation with occipital cephalocele and evidence for genetic heterogeneity

Ali Jalali, Kimberly A Aldinger, Ajit Chary, David G Mclone, Robin M Bowman, Luan Cong Le, Phillip Jardine, Ruth Newbury-Ecob, Andrew Mallick, Nadereh Jafari, …

Human genetics, Vol.123(3), pp.237-245

04/2008

DOI: 10.1007/s00439-008-0467-y

PMCID: PMC2822644

PMID: 18204864

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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.

Details

Title: Subtitle: Linkage to chromosome 2q36.1 in autosomal dominant Dandy-Walker malformation with occipital cephalocele and evidence for genetic heterogeneity
Creators: Ali Jalali - Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL, USA
Kimberly A Aldinger - Committee on Neurobiology, The University of Chicago, Chicago, IL, USA
Ajit Chary - Department of Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, IL, USA
David G Mclone - Department of Neurosurgery, Northwestern University Feinberg School of Medicine, Chicago, IL, USA
Robin M Bowman - Department of Neurosurgery, Northwestern University Feinberg School of Medicine, Chicago, IL, USA
Luan Cong Le - HoChiMinh City Hospital, HoChiMinh City, Vietnam
Phillip Jardine - Department of Paediatrics, Bristol Royal Hospital for Children, Bristol, UK
Ruth Newbury-Ecob - Department of Clinical Genetics, St Michael's Hospital, Bristol, UK
Andrew Mallick - Department of Paediatrics, Yeovil Hospital, Somerset, UK
Nadereh Jafari - Center for Genetic Medicine, Northwestern University Feinberg School of Medicine, Chicago, IL, USA
Eric J Russell - Department of Radiology, Northwestern University Feinberg School of Medicine, Chicago, IL, USA
John Curran - Department of Radiology, Northwestern University Feinberg School of Medicine, Chicago, IL, USA
Pam Nguyen - Department of Radiology, Northwestern University Feinberg School of Medicine, Chicago, IL, USA
Karim Ouahchi - Department of Pathology, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, UK
Charles Lee - Department of Pathology, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, UK
William B Dobyns - Departments of Human Genetics and Neurology, The University of Chicago, Chicago, IL, USA
Kathleen J Millen - Departments of Human Genetics and Neurology, The University of Chicago, Chicago, IL, USA
Joao M Pina-Neto - Department of Genetics, School of Medicine, Universidade de São Paolo, Ribeirão Preto, Brazil
John A Kessler - Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL, USA
Alexander G Bassuk - Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL, USA; Department of Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, IL, USA
Resource Type: Journal article
Publication Details: Human genetics, Vol.123(3), pp.237-245
DOI: 10.1007/s00439-008-0467-y
PMID: 18204864
PMCID: PMC2822644
NLM abbreviation: Hum Genet
ISSN: 0340-6717
eISSN: 1432-1203
Language: English
Date published: 04/2008
Academic Unit: Neurology; Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Neurology (Pediatrics)
Record Identifier: 9984020755402771

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