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GWAS reveals loci associated with velopharyngeal dysfunction.

ABSTRACT: Velopharyngeal dysfunction (VPD) occurs when the muscular soft palate (velum) and lateral pharyngeal walls are physically unable to separate the oral and nasal cavities during speech production leading to hypernasality and abnormal speech reduction. Because VPD is often associated with overt or submucous cleft palate, it could be present as a subclinical phenotype in families with a history of orofacial clefting. A key assumption to this model is that the overt and subclinical manifestations of the orofacial cleft phenotype exist on a continuum and therefore share common etiological factors. We performed a genome-wide association study in 976 unaffected relatives of isolated CP probands, 54 of whom had VPD. Five loci were significantly (p?

SUBMITTER: Chernus J

PROVIDER: S-EPMC5981322 | biostudies-literature | 2018 May

REPOSITORIES: biostudies-literature

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GWAS reveals loci associated with velopharyngeal dysfunction.

Chernus Jonathan J Roosenboom Jasmien J Ford Matthew M Lee Myoung Keun MK Emanuele Beth B Anderton Joel J Hecht Jacqueline T JT Padilla Carmencita C Deleyiannis Frederic W B FWB Buxo Carmen J CJ Feingold Eleanor E Leslie Elizabeth J EJ Shaffer John R JR Weinberg Seth M SM Marazita Mary L ML

Scientific reports 20180531 1

Velopharyngeal dysfunction (VPD) occurs when the muscular soft palate (velum) and lateral pharyngeal walls are physically unable to separate the oral and nasal cavities during speech production leading to hypernasality and abnormal speech reduction. Because VPD is often associated with overt or submucous cleft palate, it could be present as a subclinical phenotype in families with a history of orofacial clefting. A key assumption to this model is that the overt and subclinical manifestations of ...[more]

PMID: 29855589

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