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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 Vikkula
Published 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.
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