Candidate genes for oral-facial clefts in Guatemalan families.

Annals of Plastic Surgery
Katherine NeiswangerMary L Marazita

Abstract

Nonsyndromic cleft lip +/- cleft palate (CL/P) is a complex trait of unknown etiology. Most genetic studies of CL/P define affection status in a way that ignores subtle subclinical manifestations, resulting in a potential loss of statistical power. This study investigated 10 candidate genes in 155 individuals from 25 Guatemalan CL/P families. High-resolution ultrasound images of the orbicularis oris (OO) muscle were obtained. CL/P was present in 28 family members; an additional 10 had subcutaneous OO muscle defects. Family-based association studies were performed for both narrow (CL/P only) and broad (CL/P plus OO muscle defects) definitions of affection status. PVRL1 was significantly associated under both definitions (P = 0.04, narrow; P = 0.02, broad). Association with JAG2 improved from P = 0.09 under the narrow definition to P = 0.04 under the broad definition. Broadening the oral-facial cleft phenotype to include subclinical variants may improve power in genetic studies.

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Citations

Dec 19, 2008·European Journal of Human Genetics : EJHG·Sun J ChoiThomas C Hart
Sep 1, 2009·Genetic Testing and Molecular Biomarkers·Mehmet A SözenRichard A Spritz
Jan 8, 2008·The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association·Seth M WeinbergMary L Marazita
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Feb 15, 2011·Birth Defects Research. Part A, Clinical and Molecular Teratology·Astanand JugessurJeffrey Clark Murray
May 15, 2015·Journal of Plastic Surgery and Hand Surgery·Bárbara Daniane G L LeiteHercílio Martelli-Júnior
Jul 8, 2015·The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association·Norliana GhazaliSaidi Jaafar
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May 18, 2017·Development·Jan Mašek, Emma R Andersson
May 15, 2007·American Journal of Medical Genetics. Part a·Katherine NeiswangerMary L Marazita

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