02225nas a2200265   4500008004100000022001400041245012800055210006900183260001300252300001200265490000800277520128900285100002301574700002801597700002501625700002001650700002001670700001901690700002501709700002301734700002501757700002501782700002101807856013101828       2015                        eng d  a1600-072200aFamily-based genome-wide association study in Patagonia confirms the association of the DMD locus and cleft lip and palate.0 aFamilybased genomewide association study in Patagonia confirms t  c2015 Oct  a381-3840 v1233 a<p>The etiology of cleft lip with or without cleft palate (CL±P) is complex and heterogeneous, and multiple genetic and environmental factors are involved. Some candidate genes reported to be associated with oral clefts are located on the X chromosome. At least three genes causing X-linked syndromes [midline 1 (MID1), oral-facial-digital syndrome 1 (OFD1), and dystrophin (DMD)] were previously found to be associated with isolated CL±P. We attempted to confirm the role of X-linked genes in the etiology of isolated CL±P in a South American population through a family-based genome-wide scan. We studied 27 affected children and their mothers, from 26 families, in a Patagonian population with a high prevalence of CL±P. We conducted an exploratory analysis of the X chromosome to identify candidate regions associated with CL±P. Four genomic segments were identified, two of which showed a statistically significant association with CL±P. One is an 11-kb region of Xp21.1 containing the DMD gene, and the other is an intergenic region (8.7 kb; Xp11.4). Our results are consistent with recent data on the involvement of the DMD gene in the etiology of CL±P. The MID1 and OFD1 genes were not included in the four potential CL±P-associated X-chromosome genomic segments.</p>1 aFonseca, Renata, F1 ade Carvalho, Flávia, M1 aPoletta, Fernando, A1 aMontaner, David1 aDopazo, Joaquin1 aMereb, Juan, C1 aMoreira, Miguel, A M1 aSeuanez, Hector, N1 aVieira, Alexandre, R1 aCastilla, Eduardo, E1 aOrioli, Iêda, M  uhttps://www.clinbioinfosspa.es/content/family-based-genome-wide-association-study-patagonia-confirms-association-dmd-locus-and