ArticleInternational journal of pediatric otorhinolaryngology2013
A candidate gene approach to identify modifiers of the palatal phenotype in 22q11.2 deletion syndrome patients.
Article in International journal of pediatric otorhinolaryngology, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed, 16 citations in OpenAlex.
- Do Palatoplasty Procedures Resolve Hypernasality as Effectively as Pharyngoplasty Procedures in Patients with 22q11.2 Deletion Syndrome?The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association · 2025Article
- The 22q11.2 Microdeletion in Pediatric Patients with Cleft Lip, Palate, or Both and Congenital Heart Disease: A Systematic Review.Journal of pediatric genetics · 2020Review
- Association of MAPK4 and SOX1-OT gene polymorphisms with cleft lip palate in multiplex families: A genetic study.Journal of dental research, dental clinics, dental prospects · 2020Article
- 22q and two: 22q11.2 deletion syndrome and coexisting conditions.American journal of medical genetics. Part A · 2018Article
- Variable immune deficiency related to deletion size in chromosome 22q11.2 deletion syndrome.American journal of medical genetics. Part A · 2018Review
- A higher rare CNV burden in the genetic background potentially contributes to intellectual disability phenotypes in 22q11.2 deletion syndrome.European journal of medical genetics · 2018Article
- 22q11.2 deletion syndrome.Nature reviews. Disease primers · 2015Review
- MicroRNA-17-92, a direct Ap-2α transcriptional target, modulates T-box factor activity in orofacial clefting.PLoS genetics · 2013Article
- Association of Nucleotide Variants of GRHL3, IRF6, NAT2, SDC2, BCL3, and PVRL1 Genes with Nonsyndromic Cleft Lip With/Without Cleft Palate in Multigenerational Families: A Retrospective Study.Contemporary clinical dentistryArticle
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Authors and funding
11 authors at 6 institutions in 2 countries.
Funding
Abstract
objectivePalatal 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.
methodsPatients 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.
resultsGenotype 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 ≤0.05 prior to correction. The most significant SNPs were found on FGF10. However none of the SNPs remained significant after correcting for multiple testing.
conclusionsAlthough these results are promising, analysis of additional samples will be required to confirm that variants in these regions influence risk for cleft palate or palatal anomalies in 22q11.2DS patients.
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