Family‐based genome‐wide association study in Patagonia confirms the association of the DMD locus and cleft lip and palate. (1st September 2015)

• Record Type: Journal Article
• Authors: Fonseca, Renata F.; de Carvalho, Flávia M.; Poletta, Fernando A.; Montaner, David; Dopazo, Joaquin; Mereb, Juan C.; Moreira, Miguel A. M.; Seuanez, Hector N.; Vieira, Alexandre R.; Castilla, Eduardo E.; Orioli, Iêda M.
• Is Part Of: European journal of oral sciences. Volume 123:Number 5(2015:Oct.)
• Page Start: 381
• Page End: 384
• Publication Date: 2015-09-01
• Subjects: Dentistry -- Periodicals; Oral medicine -- Periodicals; 617.6005
• DOI: 10.1111/eos.12212
• Languages: English
• ISSNs: 0909-8836

Abstract

<abstract abstract-type="main" id="eos12212-abs-0001"> <title> <x xml:space="preserve">Abstract</x> </title> <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 (<italic>MID1</italic>), oral‐facial‐digital syndrome 1 (<italic>OFD1</italic>), and dystrophin (<italic>DMD</italic>)] 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 <italic>DMD</italic> 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 <italic>DMD</italic> gene in the etiology of CL±P. The <italic>MID1</italic> and <italic>OFD1</italic> genes were not included in the four potential CL±P‐associated X‐chromosome genomic segments.</p> </abstract>