Family-based genome-wide association study in Patagonia confirms the association of the DMD locus and cleft lip and palate

European Journal of Oral Sciences
Renata F FonsecaIêda M Orioli

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-chromos...Continue Reading

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Citations

Aug 27, 2016·International Braz J Urol : Official Journal of the Brazilian Society of Urology·Nicolas FernandezIgnacio Zarante
Apr 24, 2018·Journal of Oral Pathology & Medicine : Official Publication of the International Association of Oral Pathologists and the American Academy of Oral Pathology·Bi-He ZhangZhong-Lin Jia
Dec 7, 2018·Oral Diseases·ShuYuan JiangZhong-Lin Jia
Jun 26, 2020·The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association·Yuzi XuFuming He
Apr 24, 2016·European Journal of Oral Sciences·Camilla D Vieira-MachadoIêda M Orioli
Nov 4, 2021·The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association·Bin YinZhong-Lin Jia

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