title: Characterization of a 520 kb deletion on chromosome 15q26.1 including ST8SIA2 in a patient with behavioral disturbance, autism spectrum disorder, and epilepsy.
abstract: We present a patient with a behavioral disorder, epilepsy, and autism spectrum disorder who has a 520 kb chromosomal deletion at 15q26.1 encompassing three genes: ST8SIA2, C15orf32, and FAM174B. Alpha-2,8-Sialyltransferase 2 (ST8SIA2) is expressed in the developing brain and appears to play an important role in neuronal migration, axon guidance and synaptic plasticity. It has recently been implicated in a genome wide association study as a potential factor underlying autism, and has also been implicated in the pathogenesis of bipolar disorder and schizophrenia. This case provides supportive evidence that ST8SIA2 haploinsufficiency may play a role in neurobehavioral phenotypes.
authors.affiliation: Hunter Genetics, Newcastle, New South Wales, Australia; School of Medicine and Public Health, The University of Newcastle, Newcastle, New South Wales, Australia.
authors.forename: Benjamin
authors.initials: B
authors.lastname: Kamien
authors.forename: James
authors.initials: J
authors.lastname: Harraway
authors.forename: Ben
authors.initials: B
authors.lastname: Lundie
authors.forename: Lex
authors.initials: L
authors.lastname: Smallhorne
authors.forename: Vicki
authors.initials: V
authors.lastname: Gibbs
authors.forename: Anna
authors.initials: A
authors.lastname: Heath
authors.forename: Janice M
authors.initials: JM
authors.lastname: Fullerton
mesh_terms: D002653:Child Behavior Disorders / Q000175:diagnosis / Q000235:genetics*; D002659:Child Development Disorders, Pervasive / Q000175:diagnosis / Q000235:genetics*; D002675:Child, Preschool; D002872:Chromosome Deletion; D002884:Chromosomes, Human, Pair 15; D055028:Comparative Genomic Hybridization; D004827:Epilepsy / Q000175:diagnosis / Q000235:genetics*; D019066:Facies; D006239:Haplotypes; D006801:Humans; D015810:Linkage Disequilibrium; D008297:Male; D010375:Pedigree; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide; D012799:Sialyltransferases / Q000235:genetics*
chemical_list: C046778:CMP-N-acetylneuraminate-poly-alpha-2,8-sialosyl sialyltransferase; D012799:Sialyltransferases
keywords: C15ORF32; FAM174B; ST8SIA2; autism spectrum disorder; epilepsy; genetic susceptibility; oligonucleotide microarray