title: A 1.5Mb terminal deletion of 12p associated with autism spectrum disorder.
abstract: We report a patient with a terminal 12p deletion associated with autism spectrum disorder (ASD). This 12p13.33 deletion is 1.5Mb in size and encompasses 13 genes (B4GALNT3, CCDC77, ERC1, FBXL14, IQSEC3, KDM5A, LINC00942, LOC574538, NINJ2, RAD52, SLC6A12, SLC6A13 and WNK1). All previous cases reported with partial monosomy of 12p13.33 are associated with neurodevelopmental delay, and we suggest that ERC1, which encodes a regulator of neurotransmitter release, is the best gene candidate contributing to this phenotype as well as to the ASD of our patient.
authors.affiliation: Group for Advanced Molecular Investigation (NIMA), School of Health and Biosciences, Pontifícia Universidade Católica do Paraná (PUCPR), Curitiba, Paraná, Brazil.
authors.forename: Isabela M W
authors.initials: IM
authors.lastname: Silva
authors.affiliation: Signature Genomics, PerkinElmer, Inc., Spokane, WA, USA.
authors.forename: Jill
authors.initials: J
authors.lastname: Rosenfeld
authors.affiliation: Pediatrics Department, Universidade Federal do Paraná, Curitiba, Paraná, Brazil.
authors.forename: Sergio A
authors.initials: SA
authors.lastname: Antoniuk
authors.affiliation: GENETIKA - Centro de Aconselhamento e Laboratorio de Genetica, Curitiba, Paraná, Brazil; Group for Advanced Molecular Investigation (NIMA), Graduate Program in Health Sciences, School of Medicine, Pontifícia Universidade Católica do Paraná (PUCPR), Curitiba, Paraná, Brazil.
authors.forename: Salmo
authors.initials: S
authors.lastname: Raskin
authors.affiliation: Group for Advanced Molecular Investigation (NIMA), Graduate Program in Health Sciences, School of Medicine, Pontifícia Universidade Católica do Paraná (PUCPR), Curitiba, Paraná, Brazil. Electronic address: vanessa.sotomaior@pucpr.br.
authors.forename: Vanessa S
authors.initials: VS
authors.lastname: Sotomaior
mesh_terms: D048868:Adaptor Proteins, Signal Transducing / Q000235:genetics*; D002648:Child; D002659:Child Development Disorders, Pervasive; D002872:Chromosome Deletion; D002881:Chromosomes, Human, Pair 12 / Q000235:genetics*; D002658:Developmental Disabilities / Q000235:genetics*; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006801:Humans; D059785:Karyotype; D008297:Male; D009419:Nerve Tissue Proteins / Q000235:genetics*
chemical_list: D048868:Adaptor Proteins, Signal Transducing; C468925:ERC1 protein, human; D009419:Nerve Tissue Proteins
keywords: 12p13.33 microdeletion; Array comparative genomic hybridization; Autism spectrum disorder; ERC1; Neurodevelopmental delay