De novo variants in CNOT3 cause a variable neurodevelopmental disorder

• Published in: European journal of human genetics : EJHG Vol. 27; no. 11; pp. 1677 - 1682
• Main Authors: Martin, R., Splitt, M., Genevieve, D., Aten, E., Collins, A., de Bie, C. I., Faivre, L., Foulds, N., Giltay, J., Ibitoye, R., Joss, S., Kennedy, J., Kerr, B., Kivuva, E., Koopmans, M., Newbury-Ecob, R., Jean-Marçais, N., Peeters, E. A. J., Smithson, S., Tomkins, S., Tranmauthem, F., Piton, A., van Haeringen, A.
• Format: Journal Article
• Language: English
• Published: England Nature Publishing Group 01.11.2019; Springer International Publishing
• Subjects: Amino Acid Sequence; Amino acid substitution; Behavior; Developmental Disabilities - genetics; Exome; Female; Genetic Association Studies; Genetic Predisposition to Disease - genetics; Genetic Variation; Genetics; Genotype & phenotype; Haploinsufficiency; Human genetics; Humans; Intellectual Disability - genetics; Ireland; Learning; Life Sciences; Male; Muscle Hypotonia - genetics; Musculoskeletal Abnormalities - genetics; Mutation, Missense; Neurodevelopmental disorders; Neurodevelopmental Disorders - genetics; Neurodevelopmental Disorders - physiopathology; Neurons and Cognition; Phenotype; Phenotypes; Sequence Alignment; Transcription Factors - genetics; United Kingdom; Whole Exome Sequencing; United Kingdom; Ireland; Novo variants in CNOT3; Developmental disorder; Hypotonia; Haploinsufficiency

As a result of exome-based sequencing work performed by the DDD study, de novo variants in CNOT3 have emerged as a newly recognised cause of a developmental disorder. This paper describes molecular and clinical details of 16 probands with developmental disorders and de novo CNOT3 variants. It is the...