Whole exome sequencing identifies mutations in 10% of patients with familial non-syndromic cleft lip and/or palate in genes mutated in well-known syndromes.
Mirta BashaBénédicte DemeerNicole RevencuRaphael HelaersStephanie TheysSami Bou SabaOdile BouteBernard DevauchelleGeneviève FrancoisBénédicte BayetMiikka VikkulaPublished in: Journal of medical genetics (2018)
These data demonstrate that patients with CL/P without cardinal signs of a syndrome may still carry a mutation in a gene linked to syCL/P. Rare coding and non-coding variants in syCL/P genes could in part explain the controversial question of 'missing heritability' for nsCL/P. Therefore, gene panels designed for diagnostic testing of syCL/P should be used for patients with nsCL/P, especially when there is at least third-degree family history. This would allow a more precise management, follow-up and genetic counselling. Moreover, stratified cohorts would allow hunting for genetic modifiers.
Keyphrases
- genome wide
- copy number
- dna methylation
- genome wide identification
- intellectual disability
- transcription factor
- electronic health record
- genome wide analysis
- big data
- case report
- early onset
- smoking cessation
- deep learning
- artificial intelligence
- hiv infected
- autism spectrum disorder
- human immunodeficiency virus
- antiretroviral therapy
- wild type