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Association between peroxisomal biogenesis factor 7 and autism spectrum disorders in a Korean population

Title
Association between peroxisomal biogenesis factor 7 and autism spectrum disorders in a Korean population
Authors
Ro M.Park J.Nam M.Bang H.J.Yang J.Choi K.-S.Kim S.K.Chung J.-H.Kwack K.
Ewha Authors
방희정
SCOPUS Author ID
방희정scopus
Issue Date
2012
Journal Title
Journal of Child Neurology
ISSN
0883-0738JCR Link
Citation
vol. 27, no. 10, pp. 1270 - 1275
Indexed
SCI; SCIE; SCOPUS WOS scopus
Abstract
Autism spectrum disorder is a neurodevelopmental disorder characterized by deficits in social communication, impaired reciprocal social interaction, and repetitive patterns of behaviors or interests. Although the cause of autism spectrum disorder remains elusive, the present study identified peroxisomal biogenesis factor 7 (PEX7) as a gene associated with autism spectrum disorder, and this association was examined in a Korean population. PEX7 encodes a cytosolic receptor for peroxisome targeting signal 2 of peroxisomal matrix enzymes that are targeted to and translocated into the peroxisome. PEX7 defects are associated with rhizomelic chondrodysplasia punctata type 1 and Refsum disease. Mutations in PEX7 are related to a variety of mild to severe clinical symptoms, including mental retardation. The analysis of 9 intronic single nucleotide polymorphisms in 214 patients with autism spectrum disorder and 258 controls revealed the association of 2 single nucleotide polymorphisms and 1 haplotype with autism spectrum disorder (P <.05). © The Author(s) 2012.
DOI
10.1177/0883073811435507
Appears in Collections:
사회과학대학 > 심리학전공 > Journal papers
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