Characterization of a 520 kb deletion on chromosome 15q26.1 including ST8SIA2 in a patient with behavioral disturbance, autism spectrum disorder, and epilepsy. Issue 3 (19th December 2013)

• Record Type: Journal Article
• Authors: Kamien, Benjamin; Harraway, James; Lundie, Ben; Smallhorne, Lex; Gibbs, Vicki; Heath, Anna; Fullerton, Janice M.
• Is Part Of: American journal of medical genetics. Volume 164:Issue 3(2014.)
• Page Start: 782
• Page End: 788
• Publication Date: 2013-12-19
• Subjects: Medical genetics -- Periodicals; 616.14205
• DOI: 10.1002/ajmg.a.36345
• Languages: English
• ISSNs: 1552-4825

Abstract

<abstract abstract-type="main"> <title> <x xml:space="preserve">Abstract</x> </title> <sec id="ajmga36345-sec-0001" sec-type="section"> <p>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: <italic>ST8SIA2</italic>, <italic>C15orf32</italic>, and <italic>FAM174B</italic>. 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 <italic>ST8SIA2</italic> haploinsufficiency may play a role in neurobehavioral phenotypes. © 2013 Wiley Periodicals, Inc.</p> </sec> </abstract>