A genome-wide scan for loci predisposing to non-syndromic cleft lip with or without cleft palate in two large Syrian families.

Abstract

Non-syndromic cleft lip with/without cleft palate (CL/P) is a common, usually non-fatal birth defect of complex etiology. Several segregation analyses have demonstrated that genetic factors are important in the pathogenesis of CL/P, most likely through the interaction of several genes of modest effects. The aim of this study was to perform a genome-wide linkage analysis to identify/search for candidate gene loci for CL/P. We conducted a genome-wide search in two large, relatively isolated Syrian families, each one with a large number of cases with CL/P (18 in family 1 and 4 in family 2). A locus with a multipoint LOD score of 2.80 and a 2-point non-parametric MLS LOD of 3.0 was detected on 17p13.1. Other chromosomal regions with multipoint LOD scores > or = 1.2 (P < or = 0.01) included 3p21.2, 4q32.1, and 7q34. These data indicate the possible presence of several susceptibility loci for CL/P and identify a strong candidate locus for this common birth defect on chromosome 17p13.

Cite this paper

@article{Wyszynski2003AGS, title={A genome-wide scan for loci predisposing to non-syndromic cleft lip with or without cleft palate in two large Syrian families.}, author={Diego F. Wyszynski and Hasan Albacha-Hejazi and Mohammed Aldirani and Moustafa Hammod and Hikmat Shkair and Ahmed Karam and Jehad Alashkar and Taura N Holmes and Elizabeth W. Pugh and Kimberly Doheny and Iain Mcintosh and Terri H. Beaty and Joan E. Bailey-Wilson}, journal={American journal of medical genetics. Part A}, year={2003}, volume={123A 2}, pages={140-7} }