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Herman, Sean B.; Guo, Tingwei; McGinn, Donna M. McDonald; Blonska, Anna; Shanske, Alan L.; Bassett, Anne S.; Chow, Eva W.C.; Bowser, Mark; Sheridan, Molly; Beemer, Frits; Devriendt, Koen; Swillen, Ann; Breckpot, Jeroen; Digilio, M. Cristina; Marino, Bruno; Dallapiccola, Bruno; Carpenter, Courtney; Zheng, Xin; Johnson, Jacob; Chung, Jonathan; Higgins, Anne Marie; Philip, Nicole; Simon, Tony; Coleman, Karlene; [...]

Overt cleft palate phenotype andTBX1genotype correlations in velo‐cardio‐facial/DiGeorge/22q11.2 deletion syndrome patients

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  • Media type: E-Article
  • Title: Overt cleft palate phenotype andTBX1genotype correlations in velo‐cardio‐facial/DiGeorge/22q11.2 deletion syndrome patients
  • Contributor: Herman, Sean B.; Guo, Tingwei; McGinn, Donna M. McDonald; Blonska, Anna; Shanske, Alan L.; Bassett, Anne S.; Chow, Eva W.C.; Bowser, Mark; Sheridan, Molly; Beemer, Frits; Devriendt, Koen; Swillen, Ann; Breckpot, Jeroen; Digilio, M. Cristina; Marino, Bruno; Dallapiccola, Bruno; Carpenter, Courtney; Zheng, Xin; Johnson, Jacob; Chung, Jonathan; Higgins, Anne Marie; Philip, Nicole; Simon, Tony; Coleman, Karlene; [...]
  • imprint: Wiley, 2012
  • Published in: American Journal of Medical Genetics Part A
  • Language: English
  • DOI: 10.1002/ajmg.a.35512
  • ISSN: 1552-4825; 1552-4833
  • Origination:
  • Footnote:
  • Description: <jats:title>Abstract</jats:title><jats:p>Velo‐cardio‐facial syndrome/DiGeorge syndrome, also known as 22q11.2 deletion syndrome (22q11DS) is the most common microdeletion syndrome, with an estimated incidence of 1/2,000–1/4,000 live births. Approximately 9–11% of patients with this disorder have an overt cleft palate (CP), but the genetic factors responsible for CP in the 22q11DS subset are unknown. The<jats:italic>TBX1</jats:italic>gene, a member of the T‐box transcription factor gene family, lies within the 22q11.2 region that is hemizygous in patients with 22q11DS. Inactivation of one allele of<jats:italic>Tbx1</jats:italic>in the mouse does not result in CP, but inactivation of both alleles does. Based on these data, we hypothesized that DNA variants in the remaining allele of<jats:italic>TBX1</jats:italic>may confer risk to CP in patients with 22q11DS. To test the hypothesis, we evaluated<jats:italic>TBX1</jats:italic>exon sequencing (n = 360) and genotyping data (n = 737) with respect to presence (n = 54) or absence (n = 683) of CP in patients with 22q11DS. Two upstream SNPs (rs4819835 and rs5748410) showed individual evidence for association but they were not significant after correction for multiple testing. Associations were not identified between DNA variants and haplotypes in 22q11DS patients with CP. Overall, this study indicates that common DNA variants in<jats:italic>TBX1</jats:italic>may be nominally causative for CP in patients with 22q11DS. This raises the possibility that genes elsewhere on the remaining allele of 22q11.2 or in the genome could be relevant. © 2012 Wiley Periodicals, Inc.</jats:p>