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Article

Characterization of a 520 kb deletion on chromosome 15q26.1 including ST8SIA2 in a patient with behavioral disturbance, autism spectrum disorder, and epilepsy.

American journal of medical genetics. Part A - 1 Mar 2014

Kamien Benjamin, Harraway James, Lundie Ben, Smallhorne Lex, Gibbs Vicki, Heath Anna, Fullerton Janice M

Abstract excerpt

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...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 24357335
DOI: 10.1002/ajmg.a.36345

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