A candidate gene approach to identify modifiers of the palatal phenotype in 22q11.2 deletion syndrome patients

Josine C. C. Widdershoven; Mark Bowser; Molly B. Sheridan; Donna M. McDonald-McGinn; Elaine H. Zackai; Cynthia B. Solot; Richard E. Kirschner; Frits A. Beemer; Bernice E. Morrow; Marcella Devoto; Beverly S. Emanuel

doi:10.1016/j.ijporl.2012.10.009

A candidate gene approach to identify modifiers of the palatal phenotype in 22q11.2 deletion syndrome patients

Josine C. C. Widdershoven^*, Mark Bowser, Molly B. Sheridan, Donna M. McDonald-McGinn, Elaine H. Zackai, Cynthia B. Solot, Richard E. Kirschner, Frits A. Beemer, Bernice E. Morrow, Marcella Devoto, Beverly S. Emanuel

^*Corresponding author for this work

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

Abstract

Objective: Palatal anomalies are one of the identifying features of 22q11.2 deletion syndrome (22q11.2DS) affecting about one third of patients. To identify genetic variants that increase the risk of cleft or palatal anomalies in 22q11.2DS patients, we performed a candidate gene association study in 101 patients with 22q11.2DS genotyped with the Affymetrix genome-wide human SNP array 6.0. Methods: Patients from Children's Hospital of Philadelphia, USA and Wilhelmina Children's Hospital Utrecht, The Netherlands were stratified based on palatal phenotype (overt cleft, submucosal cleft, bifid uvula). SNPs in 21 candidate genes for cleft palate were analyzed for genotype-phenotype association. In addition, TBX1 sequencing was carried out. Quality control and association analyses were conducted using the software package PLINK. Results: Genotype and phenotype data of 101 unrelated patients (63 non-cleft subjects (62.4%), 38 cleft subjects (37.6%)) were analyzed. A Total of 39 SNPs on 10 genes demonstrated a p-value

Original language	English
Pages (from-to)	123-127
Journal	International Journal of Pediatric Otorhinolaryngology
Volume	77
Issue number	1
DOIs	https://doi.org/10.1016/j.ijporl.2012.10.009
Publication status	Published - Jan 2013

Keywords

22q11.2 deletion syndrome
Cleft palate
Candidate gene

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10.1016/j.ijporl.2012.10.009

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Widdershoven, J. C. C., Bowser, M., Sheridan, M. B., McDonald-McGinn, D. M., Zackai, E. H., Solot, C. B., Kirschner, R. E., Beemer, F. A., Morrow, B. E., Devoto, M., & Emanuel, B. S. (2013). A candidate gene approach to identify modifiers of the palatal phenotype in 22q11.2 deletion syndrome patients. International Journal of Pediatric Otorhinolaryngology, 77(1), 123-127. https://doi.org/10.1016/j.ijporl.2012.10.009

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title = "A candidate gene approach to identify modifiers of the palatal phenotype in 22q11.2 deletion syndrome patients",

abstract = "Objective: Palatal anomalies are one of the identifying features of 22q11.2 deletion syndrome (22q11.2DS) affecting about one third of patients. To identify genetic variants that increase the risk of cleft or palatal anomalies in 22q11.2DS patients, we performed a candidate gene association study in 101 patients with 22q11.2DS genotyped with the Affymetrix genome-wide human SNP array 6.0. Methods: Patients from Children's Hospital of Philadelphia, USA and Wilhelmina Children's Hospital Utrecht, The Netherlands were stratified based on palatal phenotype (overt cleft, submucosal cleft, bifid uvula). SNPs in 21 candidate genes for cleft palate were analyzed for genotype-phenotype association. In addition, TBX1 sequencing was carried out. Quality control and association analyses were conducted using the software package PLINK. Results: Genotype and phenotype data of 101 unrelated patients (63 non-cleft subjects (62.4%), 38 cleft subjects (37.6%)) were analyzed. A Total of 39 SNPs on 10 genes demonstrated a p-value ",

keywords = "22q11.2 deletion syndrome, Cleft palate, Candidate gene",

author = "Widdershoven, {Josine C. C.} and Mark Bowser and Sheridan, {Molly B.} and McDonald-McGinn, {Donna M.} and Zackai, {Elaine H.} and Solot, {Cynthia B.} and Kirschner, {Richard E.} and Beemer, {Frits A.} and Morrow, {Bernice E.} and Marcella Devoto and Emanuel, {Beverly S.}",

year = "2013",

month = jan,

doi = "10.1016/j.ijporl.2012.10.009",

language = "English",

volume = "77",

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journal = "International Journal of Pediatric Otorhinolaryngology",

issn = "0165-5876",

publisher = "Elsevier Ireland Ltd",

number = "1",

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Widdershoven, JCC, Bowser, M, Sheridan, MB, McDonald-McGinn, DM, Zackai, EH, Solot, CB, Kirschner, RE, Beemer, FA, Morrow, BE, Devoto, M & Emanuel, BS 2013, 'A candidate gene approach to identify modifiers of the palatal phenotype in 22q11.2 deletion syndrome patients', International Journal of Pediatric Otorhinolaryngology, vol. 77, no. 1, pp. 123-127. https://doi.org/10.1016/j.ijporl.2012.10.009

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T1 - A candidate gene approach to identify modifiers of the palatal phenotype in 22q11.2 deletion syndrome patients

AU - Widdershoven, Josine C. C.

AU - Bowser, Mark

AU - Sheridan, Molly B.

AU - McDonald-McGinn, Donna M.

AU - Zackai, Elaine H.

AU - Solot, Cynthia B.

AU - Kirschner, Richard E.

AU - Beemer, Frits A.

AU - Morrow, Bernice E.

AU - Devoto, Marcella

AU - Emanuel, Beverly S.

PY - 2013/1

Y1 - 2013/1

N2 - Objective: Palatal anomalies are one of the identifying features of 22q11.2 deletion syndrome (22q11.2DS) affecting about one third of patients. To identify genetic variants that increase the risk of cleft or palatal anomalies in 22q11.2DS patients, we performed a candidate gene association study in 101 patients with 22q11.2DS genotyped with the Affymetrix genome-wide human SNP array 6.0. Methods: Patients from Children's Hospital of Philadelphia, USA and Wilhelmina Children's Hospital Utrecht, The Netherlands were stratified based on palatal phenotype (overt cleft, submucosal cleft, bifid uvula). SNPs in 21 candidate genes for cleft palate were analyzed for genotype-phenotype association. In addition, TBX1 sequencing was carried out. Quality control and association analyses were conducted using the software package PLINK. Results: Genotype and phenotype data of 101 unrelated patients (63 non-cleft subjects (62.4%), 38 cleft subjects (37.6%)) were analyzed. A Total of 39 SNPs on 10 genes demonstrated a p-value

AB - Objective: Palatal anomalies are one of the identifying features of 22q11.2 deletion syndrome (22q11.2DS) affecting about one third of patients. To identify genetic variants that increase the risk of cleft or palatal anomalies in 22q11.2DS patients, we performed a candidate gene association study in 101 patients with 22q11.2DS genotyped with the Affymetrix genome-wide human SNP array 6.0. Methods: Patients from Children's Hospital of Philadelphia, USA and Wilhelmina Children's Hospital Utrecht, The Netherlands were stratified based on palatal phenotype (overt cleft, submucosal cleft, bifid uvula). SNPs in 21 candidate genes for cleft palate were analyzed for genotype-phenotype association. In addition, TBX1 sequencing was carried out. Quality control and association analyses were conducted using the software package PLINK. Results: Genotype and phenotype data of 101 unrelated patients (63 non-cleft subjects (62.4%), 38 cleft subjects (37.6%)) were analyzed. A Total of 39 SNPs on 10 genes demonstrated a p-value

KW - 22q11.2 deletion syndrome

KW - Cleft palate

KW - Candidate gene

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DO - 10.1016/j.ijporl.2012.10.009

M3 - Article

C2 - 23121717

SN - 0165-5876

VL - 77

SP - 123

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JO - International Journal of Pediatric Otorhinolaryngology

JF - International Journal of Pediatric Otorhinolaryngology

IS - 1

ER -

A candidate gene approach to identify modifiers of the palatal phenotype in 22q11.2 deletion syndrome patients

Abstract

Keywords

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