Subclinical Phenotypes and Genotypes in Parents of Children with Non-Syndromic Cleft of Lip and/or Palate
type: CreativeWork
description: Introduction: There is now substantial evidence that unaffected parents of NSOFC individuals have been shown to manifest distinctive dento-craniofacial phenotypes / cleft microforms compared to unaffected controls. Identification of the cleft microforms in the sub-phenotypes of clefting will improve the recurrence risk estimation and provide more informative and genetically homogenous groups for gene mapping. Aim: To assess facial morphology, the prevalence of upper lip sub-epithelial orbicularis oris (MOO) defects and lower lip whorls, and to determine tooth size and arch width dimensions in unaffected parents of children with non-syndromic orofacial clefts (NSOFC) as a cleft-related subclinical phenotype and their association with specific candidate genes. Methods: Using a case-control study design with 156 participants of Celtic background (81 parents, 75 controls), 2D photographs of the face and lower lip (Nikon D70, www.europe-nikon.com), an ultrasound scan of the upper lip (M-Turbo/HFL38X/13-6MHz linear transducer, SonoSite, Bothell, WA), impressions for study models of the upper and lower dental arches were taken, and a saliva sample was collected for collection of human DNA, (Oragene DNA, OG_500 DNA Genotek, Inc. Canada) and analysed using high-density genome-wide human arrays (Cytoscan 750K _array, Affymetrix). Facial dataxxxiiwere analysed using the discriminant analysis test in MorphoJ (http://www.flywings.org.uk/MorphoJ_page.htm), lip data using a Fisher exact test (p<0.0625 Bonferroni correction) and dental data using a Man-Whitney test (p<0.0625 Bonferroni correction) (SPSS version 22). Also, a genotype-phenotype analysis was conducted with the Odds Ratio calculated for 144 SNPs across 20 candidate loci. Results: There was a significant facial difference between the two groups (p<0.0001, T-square). The frequency of OOM defects was greater in the parents (11.1%) than in controls (4.1%), which was non-significant (p>0.05). There was no significant differ…
abstract: Introduction: There is now substantial evidence that unaffected parents of NSOFC individuals have been shown to manifest distinctive dento-craniofacial phenotypes / cleft microforms compared to unaffected controls. Identification of the cleft microforms in the sub-phenotypes of clefting will improve the recurrence risk estimation and provide more informative and genetically homogenous groups for gene mapping. Aim: To assess facial morphology, the prevalence of upper lip sub-epithelial orbicularis oris (MOO) defects and lower lip whorls, and to determine tooth size and arch width dimensions in unaffected parents of children with non-syndromic orofacial clefts (NSOFC) as a cleft-related subclinical phenotype and their association with specific candidate genes. Methods: Using a case-control study design with 156 participants of Celtic background (81 parents, 75 controls), 2D photographs of the face and lower lip (Nikon D70, www.europe-nikon.com), an ultrasound scan of the upper lip (M-Turbo/HFL38X/13-6MHz linear transducer, SonoSite, Bothell, WA), impressions for study models of the upper and lower dental arches were taken, and a saliva sample was collected for collection of human DNA, (Oragene DNA, OG_500 DNA Genotek, Inc. Canada) and analysed using high-density genome-wide human arrays (Cytoscan 750K _array, Affymetrix). Facial dataxxxiiwere analysed using the discriminant analysis test in MorphoJ (http://www.flywings.org.uk/MorphoJ_page.htm), lip data using a Fisher exact test (p<0.0625 Bonferroni correction) and dental data using a Man-Whitney test (p<0.0625 Bonferroni correction) (SPSS version 22). Also, a genotype-phenotype analysis was conducted with the Odds Ratio calculated for 144 SNPs across 20 candidate loci. Results: There was a significant facial difference between the two groups (p<0.0001, T-square). The frequency of OOM defects was greater in the parents (11.1%) than in controls (4.1%), which was non-significant (p>0.05). There was no significant differ…
author: Al-Talabani, Shaho Ziyad Jamil
language: eng
date published: 2016
date modified: 2026-07-24T02:08:26Z
provider: University of Dundee
publisher: Networked Digital Library of Theses and Dissertations
type: WebPage
source organization: University of Dundee