%0 Journal Article %J Eur J Oral Sci %D 2015 %T Family-based genome-wide association study in Patagonia confirms the association of the DMD locus and cleft lip and palate. %A Fonseca, Renata F %A de Carvalho, Flávia M %A Poletta, Fernando A %A Montaner, David %A Dopazo, Joaquin %A Mereb, Juan C %A Moreira, Miguel A M %A Seuanez, Hector N %A Vieira, Alexandre R %A Castilla, Eduardo E %A Orioli, Iêda M %X

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.

%B Eur J Oral Sci %V 123 %P 381-384 %8 2015 Oct %G eng %N 5 %1 https://www.ncbi.nlm.nih.gov/pubmed/26331285?dopt=Abstract %R 10.1111/eos.12212