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- Title
Heterozygous deletion of SCN2A and SCN3A in a patient with autism spectrum disorder and Tourette syndrome: a case report.
- Authors
Nickel, Kathrin; Tebartz van Elst, Ludger; Domschke, Katharina; Gläser, Birgitta; Stock, Friedrich; Endres, Dominique; Maier, Simon; Riedel, Andreas
- Abstract
Background: Mutations in voltage-gated sodium channel ( SCN ) genes are supposed to be of importance in the etiology of psychiatric and neurological diseases, in particular in the etiology of seizures. Previous studies report a potential susceptibility region at the chromosomal locus 2q including SCN1A , SCN2A and SCN3A genes for autism spectrum disorder (ASD). To date, there is no previous description of a patient with comorbid ASD and Tourette syndrome showing a deletion containing SCN2A and SCN3A. Case presentation: We present the unique complex case of a 28-year-old male patient suffering from developmental retardation and exhibiting a range of behavioral traits since birth. He received the diagnoses of ASD (in early childhood) and of Tourette syndrome (in adulthood) according to ICD-10 and DSM-5 criteria. Investigations of underlying genetic factors yielded a heterozygous microdeletion of approximately 719 kb at 2q24.3 leading to a deletion encompassing the five genes SCN2A (exon 1 to intron 14–15), SCN3A, GRB14 (exon 1 to intron 2–3), COBLL1 and SCL38A11. Conclusions: We discuss the association of SCN2A, SCN3A, GRB14, COBLL1 and SCL38A11 deletions with ASD and Tourette syndrome and possible implications for treatment.
- Subjects
AUTISM spectrum disorders in children; TOURETTE syndrome in adolescence; VOLTAGE-gated ion channels; SODIUM channels; HUMAN deletion mutation
- Publication
BMC Psychiatry, 2018, Vol 18, Issue 1, pN.PAG
- ISSN
1471-244X
- Publication type
Article
- DOI
10.1186/s12888-018-1822-8