Adult phenotype in Koolen-de Vries/KANSL1 haploinsufficiency syndrome

• Published in: Journal of medical genetics Vol. 59; no. 2; pp. 189 - 195
• Main Authors: Amenta, Simona, Frangella, Silvia, Marangi, Giuseppe, Lattante, Serena, Ricciardi, Stefania, Doronzio, Paolo Niccolò, Orteschi, Daniela, Veredice, Chiara, Contaldo, Ilaria, Zampino, Giuseppe, Gentile, Mattia, Scarano, Emanuela, Graziano, Claudio, Zollino, Marcella
• Format: Journal Article
• Language: English
• Published: England BMJ Publishing Group Ltd 01.02.2022; BMJ Publishing Group LTD
• Subjects: Abnormalities, Multiple - genetics; Abnormalities, Multiple - pathology; Adult; Adults; Age; Autonomy; Birth defects; Body mass index; Body weight; Chromosome Deletion; Chromosomes, Human, Pair 17 - genetics; Convulsions & seizures; Developmental defects; Epilepsy; Evolution & development; Failure to thrive; Female; Gene deletion; genetics; genotype; Genotype & phenotype; Haploinsufficiency; Humans; Intellectual disabilities; Intellectual Disability - genetics; Intellectual Disability - pathology; Language; Male; Middle Aged; Mutation; Neurodevelopmental disorders; Nuclear Proteins - genetics; Obesity; Overweight; Patients; Phenotype; Phenotypes; Point mutation; Prognosis; Puberty; Remission; Retrospective Studies; Scoliosis; Seizures; Semiotics; Social behavior; Young Adult; Italy; epilepsy; phenotype; genetics; genotype

BackgroundKoolen-de Vries syndrome (KdVS) is a multisystem neurodevelopmental disorder caused by 17q21.31 deletions or mutations in KANSL1. It was mainly described in children.MethodsA retrospective study on 9 subjects aged 19–45 years and revision of 18 literature patients, with the purpose to get...