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

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

^*Corresponding author for this work

Research output: Contribution to journal › Article › peer-review

27 Scopus citations

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.

Original language	English (US)
Pages (from-to)	237-245
Number of pages	9
Journal	Human Genetics
Volume	123
Issue number	3
DOIs	https://doi.org/10.1007/s00439-008-0467-y
State	Published - Apr 1 2008

ASJC Scopus subject areas

Genetics
Genetics(clinical)

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Jalali, A., Aldinger, K. A., Chary, A., Mclone, D. G., Bowman, R. M., Le, L. C., Jardine, P., Newbury-Ecob, R., Mallick, A., Jafari, N., Russell, E. J., Curran, J., Nguyen, P., Ouahchi, K., Lee, C., Dobyns, W. B., Millen, K. J., Pina-Neto, J. M., Kessler, J. A., & Bassuk, A. G. (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

Jalali, Ali ; Aldinger, Kimberly A. ; Chary, Ajit ; Mclone, David G. ; Bowman, Robin M. ; Le, Luan Cong ; Jardine, Phillip ; Newbury-Ecob, Ruth ; Mallick, Andrew ; Jafari, Nadereh ; Russell, Eric J. ; Curran, John ; Nguyen, Pam ; Ouahchi, Karim ; Lee, Charles ; Dobyns, William B. ; Millen, Kathleen J. ; Pina-Neto, Joao M. ; Kessler, John A. ; Bassuk, Alexander G. / Linkage to chromosome 2q36.1 in autosomal dominant Dandy-Walker malformation with occipital cephalocele and evidence for genetic heterogeneity. In: Human Genetics. 2008 ; Vol. 123, No. 3. pp. 237-245.

@article{ed8a68a9300f4a43a6dfdcedd5312b34,

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

year = "2008",

month = apr,

day = "1",

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

language = "English (US)",

volume = "123",

pages = "237--245",

journal = "Human Genetics",

issn = "0340-6717",

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Jalali, A, Aldinger, KA, Chary, A, Mclone, DG, Bowman, RM, Le, LC, Jardine, P, Newbury-Ecob, R, Mallick, A, 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, no. 3, pp. 237-245. https://doi.org/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. / Jalali, Ali; Aldinger, Kimberly A.; Chary, Ajit; Mclone, David G.; Bowman, Robin M.; Le, Luan Cong; Jardine, Phillip; Newbury-Ecob, Ruth; Mallick, Andrew; Jafari, Nadereh; Russell, Eric J.; Curran, John; Nguyen, Pam; Ouahchi, Karim; Lee, Charles; Dobyns, William B.; Millen, Kathleen J.; Pina-Neto, Joao M.; Kessler, John A.; Bassuk, Alexander G.

In: Human Genetics, Vol. 123, No. 3, 01.04.2008, p. 237-245.

Research output: Contribution to journal › Article › peer-review

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

AU - Jalali, Ali

AU - Aldinger, Kimberly A.

AU - Chary, Ajit

AU - Mclone, David G.

AU - Bowman, Robin M.

AU - Le, Luan Cong

AU - Jardine, Phillip

AU - Newbury-Ecob, Ruth

AU - Mallick, Andrew

AU - Jafari, Nadereh

AU - Russell, Eric J.

AU - Curran, John

AU - Nguyen, Pam

AU - Ouahchi, Karim

AU - Lee, Charles

AU - Dobyns, William B.

AU - Millen, Kathleen J.

AU - Pina-Neto, Joao M.

AU - Kessler, John A.

AU - Bassuk, Alexander G.

PY - 2008/4/1

Y1 - 2008/4/1

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.

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