- Title
- Characterization of a 520 kb deletion on chromosome 15q26.1 including ST8SIA2 in a patient with behavioral disturbance, autism spectrum disorder, and epilepsy
- Creator
- Kamien, Benjamin; Harraway, James; Lundie, Ben; Smallhorne, Lex; Gibbs, Vicki; Heath, Anna; Fullerton, Janice M.
- Relation
- NHMRC.630574 and 1037196
- Relation
- American Journal of Medical Genetics: Part A Vol. 164, Issue 3, p. 782-788
- Publisher Link
- http://dx.doi.org/10.1002/ajmg.a.36345
- Publisher
- John Wiley & Sons
- Resource Type
- journal article
- Date
- 2014
- Description
- 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.
- Subject
- ST8SIA2; C15ORF32; FAM174B; epilepsy; autism spectrum disorder; genetic susceptibility; oligonucleotide microarray
- Identifier
- http://hdl.handle.net/1959.13/1307547
- Identifier
- uon:21459
- Identifier
- ISSN:1552-4825
- Language
- eng
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