Functional genomics analysis of Phelan-McDermid syndrome 22q13 region during human neurodevelopment

• Published in: PloS one Vol. 14; no. 3; p. e0213921
• Main Authors: Ziats, Catherine A., Grosvenor, Luke P., Sarasua, Sara M., Thurm, Audrey E., Swedo, Susan E., Mahfouz, Ahmed, Rennert, Owen M., Ziats, Mark N.
• Format: Journal Article
• Language: English
• Published: United States Public Library of Science 15.03.2019; Public Library of Science (PLoS)
• Subjects: Adolescent; Adult; Amygdala; Analysis; Autism; Biology and Life Sciences; Brain; Brain - embryology; Brain - growth & development; Brain - metabolism; Brain research; Care and treatment; Cerebellum; Child; Child, Preschool; Childrens health; Chromosome 22; Chromosome Deletion; Chromosome Disorders - embryology; Chromosome Disorders - genetics; Chromosome Disorders - pathology; Chromosomes, Human, Pair 22 - genetics; Datasets; Disease; Exons; Female; Gene deletion; Gene expression; Gene Expression Regulation, Developmental; Gene sequencing; Genes; Genetic research; Genetics; Genomics; Genotype & phenotype; Health aspects; Heterogeneity; Humans; Infant; Infant, Newborn; Intellectual disabilities; Isoforms; Language acquisition; Male; Medicine; Medicine and Health Sciences; Mental health; Nerve Tissue Proteins - genetics; Nervous system diseases; Neurodevelopmental disorders; Neurological diseases; Neurology; Neurosciences; Organ Specificity - genetics; Pediatrics; Phelan-McDermid syndrome; Phenotype; Phenotypes; Pregnant women; Ribonucleic acid; RNA; Signs and symptoms; Spatial analysis; Transcriptome; Young Adult; New York; United States > US; Maryland; Michigan

Phelan-McDermid syndrome (PMS) is a neurodevelopmental disorder characterized by varying degrees of intellectual disability, severely delayed language development and specific facial features, and is caused by a deletion within chromosome 22q13.3. SHANK3, which is located at the terminal end of this...