Copy number variants and their implications for developmental and behavioural problems in cleft lip and/or palate.

ABSTRACT: Cleft lip and/or palate (CL/P) is the most common craniofacial congenital anomaly and has been associated with higher risk of neurodevelopmental and behavioural problems indicating potential shared genetic factors between CL/P and neurodevelopmental disorders. In this study, we aimed to determine the prevalence of neurodevelopmental copy number variants (CNV) in children with CL/P and their link to early developmental and behavioural problems. Using data from the Cleft Collective, the largest UK-based national cohort study of children with CL/P, we determined the rates of neurodevelopmental CNVs in children with CL/P comparing them to the general population, explored differences by cleft type and investigated risk of developmental delays and behavioural problems among those with CL/P and n

SUBMITTER: Rammos A 

PROVIDER: S-EPMC12409624 | biostudies-literature | 2025 Sep

REPOSITORIES: biostudies-literature