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Characterization of a 520 kb deletion on chromosome 15q26.1 including ST8SIA2 in a patient with behavioral disturbance, autism spectrum disorder, and epilepsy
Benjamin Kamien,
James Harraway,
Ben Lundie,
Lex Smallhorne,
Vicki Gibbs,
Anna Heath,
Janice M. Fullerton,
Corresponding Author
Benjamin Kamien
Hunter Genetics, Newcastle, New South Wales, Australia
School of Medicine and Public Health, The University of Newcastle, Newcastle, New South Wales, Australia
Correspondence to:
Benjamin Kamien, Hunter Genetics, P.O. Box 84, Waratah 2298, NSW, Australia. E-mail: [email protected]
Search for more papers by this authorJames Harraway
Sullivan Nicolaides Pathology, Brisbane, Queensland, Australia
Search for more papers by this authorBen Lundie
Sullivan Nicolaides Pathology, Brisbane, Queensland, Australia
Search for more papers by this authorLex Smallhorne
Sullivan Nicolaides Pathology, Brisbane, Queensland, Australia
Search for more papers by this authorVicki Gibbs
Autism Spectrum Australia, Sydney, New South Wales, Australia
Search for more papers by this authorAnna Heath
Neuroscience Research Australia, Sydney, New South Wales, Australia
Search for more papers by this authorJanice M. Fullerton
Neuroscience Research Australia, Sydney, New South Wales, Australia
School of Medical Sciences, University of New South Wales, Sydney, New South Wales, Australia
Search for more papers by this authorBenjamin Kamien,
James Harraway,
Ben Lundie,
Lex Smallhorne,
Vicki Gibbs,
Anna Heath,
Janice M. Fullerton,
Corresponding Author
Benjamin Kamien
Hunter Genetics, Newcastle, New South Wales, Australia
School of Medicine and Public Health, The University of Newcastle, Newcastle, New South Wales, Australia
Correspondence to:
Benjamin Kamien, Hunter Genetics, P.O. Box 84, Waratah 2298, NSW, Australia. E-mail: [email protected]
Search for more papers by this authorJames Harraway
Sullivan Nicolaides Pathology, Brisbane, Queensland, Australia
Search for more papers by this authorBen Lundie
Sullivan Nicolaides Pathology, Brisbane, Queensland, Australia
Search for more papers by this authorLex Smallhorne
Sullivan Nicolaides Pathology, Brisbane, Queensland, Australia
Search for more papers by this authorVicki Gibbs
Autism Spectrum Australia, Sydney, New South Wales, Australia
Search for more papers by this authorAnna Heath
Neuroscience Research Australia, Sydney, New South Wales, Australia
Search for more papers by this authorJanice M. Fullerton
Neuroscience Research Australia, Sydney, New South Wales, Australia
School of Medical Sciences, University of New South Wales, Sydney, New South Wales, Australia
Search for more papers by this authorAbstract
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. © 2013 Wiley Periodicals, Inc.
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