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

A Jalali; KA Aldinger; A Chary; DG Mclone; RM Bowman; LC Le; PE Jardine; RA Newbury-Ecob; AA Mallick; N Jafari; EJ Russell; J Curran; P Nguyen; K Ouahchi; C Lee; WB Dobyns; KJ Millen; JM Pina-Neto; JA Kessler; AG Bassuk

doi:10.1007/s00439-008-0467-y

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

A Jalali, KA Aldinger, A Chary, DG Mclone, RM Bowman, LC Le, PE Jardine, RA Newbury-Ecob, AA Mallick, N Jafari, EJ Russell, J Curran, P Nguyen, K Ouahchi, C Lee, WB Dobyns, KJ Millen, JM Pina-Neto, JA Kessler, AG Bassuk

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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.

Translated title of the contribution	Linkage to chromosome 2q36.1 in autosomal dominant Dandy-Walker malformation with occipital cephalocele and evidence for genetic heterogeneity
Original language	English
Pages (from-to)	237 - 245
Number of pages	9
Journal	Human Genetics
Volume	123(3)
DOIs	https://doi.org/10.1007/s00439-008-0467-y
Publication status	Published - Apr 2008

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Jalali, A., Aldinger, KA., Chary, A., Mclone, DG., Bowman, RM., Le, LC., Jardine, PE., Newbury-Ecob, RA., Mallick, AA., Jafari, N., Russell, EJ., Curran, J., Nguyen, P., Ouahchi, K., Lee, C., Dobyns, WB., Millen, KJ., Pina-Neto, JM., Kessler, JA., & Bassuk, AG. (2008). Linkage to chromosome 2q36.1 in autosomal dominant Dandy-Walker malformation with occipital cephalocele and evidence for genetic heterogeneity. Human Genetics, 123(3), 237 - 245. https://doi.org/10.1007/s00439-008-0467-y

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

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.",

author = "A Jalali and KA Aldinger and A Chary and DG Mclone and RM Bowman and LC Le and PE Jardine and RA Newbury-Ecob and AA Mallick and N Jafari and EJ Russell and J Curran and P Nguyen and K Ouahchi and C Lee and WB Dobyns and KJ Millen and JM Pina-Neto and JA Kessler and AG Bassuk",

year = "2008",

month = apr,

doi = "10.1007/s00439-008-0467-y",

language = "English",

volume = "123(3)",

pages = "237 -- 245",

journal = "Human Genetics",

issn = "0340-6717",

publisher = "Springer Berlin Heidelberg",

}

Jalali, A, Aldinger, KA, Chary, A, Mclone, DG, Bowman, RM, Le, LC, Jardine, PE, Newbury-Ecob, RA, Mallick, AA, Jafari, N, Russell, EJ, Curran, J, Nguyen, P, Ouahchi, K, Lee, C, Dobyns, WB, Millen, KJ, Pina-Neto, JM, Kessler, JA & Bassuk, AG 2008, 'Linkage to chromosome 2q36.1 in autosomal dominant Dandy-Walker malformation with occipital cephalocele and evidence for genetic heterogeneity', Human Genetics, vol. 123(3), pp. 237 - 245. https://doi.org/10.1007/s00439-008-0467-y

TY - JOUR

T1 - Linkage to chromosome 2q36.1 in autosomal dominant Dandy-Walker malformation with occipital cephalocele and evidence for genetic heterogeneity

AU - Jalali, A

AU - Aldinger, KA

AU - Chary, A

AU - Mclone, DG

AU - Bowman, RM

AU - Le, LC

AU - Jardine, PE

AU - Newbury-Ecob, RA

AU - Mallick, AA

AU - Jafari, N

AU - Russell, EJ

AU - Curran, J

AU - Nguyen, P

AU - Ouahchi, K

AU - Lee, C

AU - Dobyns, WB

AU - Millen, KJ

AU - Pina-Neto, JM

AU - Kessler, JA

AU - Bassuk, AG

PY - 2008/4

Y1 - 2008/4

N2 - 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.

AB - 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.

U2 - 10.1007/s00439-008-0467-y

DO - 10.1007/s00439-008-0467-y

M3 - Article (Academic Journal)

C2 - 18204864

VL - 123(3)

SP - 237

EP - 245

JO - Human Genetics

JF - Human Genetics

SN - 0340-6717

ER -

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

Abstract

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