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FAMILY-BASED GENOME-WIDE ASSOCIATION STUDY IN PATAGONIA CONFIRMS THE ASSOCIATION OF THE DMD LOCUS AND CLEFT LIP AND PALATE
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Abstract
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.
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