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

✍ Scribed by Wyszynski, Diego F. ;Albacha-Hejazi, Hasan ;Aldirani, Mohammed ;Hammod, Moustafa ;Shkair, Hikmat ;Karam, Ahmed ;Alashkar, Jehad ;Holmes, Taura N. ;Pugh, Elizabeth W. ;Doheny, Kimberly F. ;McIntosh, Iain ;Beaty, Terri H. ;Bailey-Wilson, Joan E.

• Publisher: John Wiley and Sons
• Year: 2003
• Tongue: English
• Weight: 102 KB
• Volume: 123A
• Category: Article
• ISSN: 0148-7299
• DOI: 10.1002/ajmg.a.20283

✦ Synopsis

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 ≥ 1.2 (P ≤ 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. Published 2003 Wiley‐Liss, Inc.