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

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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.

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 2008
Externally published	Yes

Bibliographical note

Funding Information:
Acknowledgments We would like to thank Hoang Le and Dung Tri Pham, HoChiMinh City Hospital, HoChiMinh City, Vietnam, for their assistance in patient recruitment. A.J. is supported by NIH pre-doctoral NRSA grant F30-NS51962. K.A.A. is supported by NIH Pre-doctoral grant GM007839–26. A.G.B. is supported by NIH grant K08-NS48174.

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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, 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

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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 = "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.}",

note = "Funding Information: Acknowledgments We would like to thank Hoang Le and Dung Tri Pham, HoChiMinh City Hospital, HoChiMinh City, Vietnam, for their assistance in patient recruitment. A.J. is supported by NIH pre-doctoral NRSA grant F30-NS51962. K.A.A. is supported by NIH Pre-doctoral grant GM007839–26. A.G.B. is supported by NIH grant K08-NS48174.",

year = "2008",

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

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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.

N1 - Funding Information: Acknowledgments We would like to thank Hoang Le and Dung Tri Pham, HoChiMinh City Hospital, HoChiMinh City, Vietnam, for their assistance in patient recruitment. A.J. is supported by NIH pre-doctoral NRSA grant F30-NS51962. K.A.A. is supported by NIH Pre-doctoral grant GM007839–26. A.G.B. is supported by NIH grant K08-NS48174.

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.

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AN - SCOPUS:41149155385

SN - 0340-6717

VL - 123

SP - 237

EP - 245

JO - Human Genetics

JF - Human Genetics

IS - 3

ER -

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

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