Variations of the candidate SEZ6L2 gene on Chromosome 16p11.2 in patients with autism spectrum disorders and in human populations.

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Variations of the candidate SEZ6L2 gene on Chromosome 16p11.2 in patients with autism spectrum disorders and in human populations.

Konyukh, Marina (author)

Delorme, Richard (author)

Chaste, Pauline (author)

Leblond, Claire (author)

Lemière, Nathalie (author)

Nygren, Gudrun, 1957 (author): Gothenburg University,Göteborgs universitet,Institutionen för neurovetenskap och fysiologi, sektionen för psykiatri och neurokemi,Institute of Neuroscience and Physiology, Department of Psychiatry and Neurochemistry

Anckarsäter, Henrik, 1966 (author): Lund University,Lunds universitet,Gothenburg University,Göteborgs universitet,Institutionen för neurovetenskap och fysiologi, sektionen för psykiatri och neurokemi,Institute of Neuroscience and Physiology, Department of Psychiatry and Neurochemistry,Rättspsykiatri, Malmö,Forskargrupper vid Lunds universitet,Forensic Psychiatry, Malmö,Lund University Research Groups

Råstam, Maria, 1948 (author): Lund University,Lunds universitet,Barn- och ungdomspsykiatri,Sektion IV,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Child and Adolescent Psychiatry,Section IV,Department of Clinical Sciences, Lund,Faculty of Medicine

Ståhlberg, Ola (author): Gothenburg University,Göteborgs universitet,Institutionen för neurovetenskap och fysiologi, sektionen för psykiatri och neurokemi,Institute of Neuroscience and Physiology, Department of Psychiatry and Neurochemistry

Amsellem, Frederique (author)

Gillberg, I Carina, 1949 (author): Gothenburg University,Göteborgs universitet,Institutionen för neurovetenskap och fysiologi, sektionen för psykiatri och neurokemi,Institute of Neuroscience and Physiology, Department of Psychiatry and Neurochemistry

Mouren-Simeoni, Marie Christine (author)

Herbrecht, Evelyn (author)

Fauchereau, Fabien (author)

Toro, Roberto (author)

Gillberg, Christopher, 1950 (author)

Leboyer, Marion (author)

Bourgeron, Thomas (author)

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2011-03-04
2011
English.
In: PLoS One. - : Public Library of Science (PLoS). - 1932-6203. ; 6:3

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Journal article (peer-reviewed)

Abstract Subject headings

Background Autism spectrum disorders (ASD) are a group of severe childhood neurodevelopmental disorders with still unknown etiology. One of the most frequently reported associations is the presence of recurrent de novo or inherited microdeletions and microduplications on chromosome 16p11.2. The analysis of rare variations of 8 candidate genes among the 27 genes located in this region suggested SEZ6L2 as a compelling candidate. Methodology/Principal Findings We further explored the role of SEZ6L2 variations by screening its coding part in a group of 452 individuals, including 170 patients with ASD and 282 individuals from different ethnic backgrounds of the Human Genome Diversity Panel (HGDP), complementing the previously reported screening. We detected 7 previously unidentified non-synonymous variations of SEZ6L2 in ASD patients. We also identified 6 non-synonymous variations present only in HGDP. When we merged our results with the previously published, no enrichment of non-synonymous variation in SEZ6L2 was observed in the ASD group compared with controls. Conclusions/Significance Our results provide an extensive ascertainment of the genetic variability of SEZ6L2 in human populations and do not support a major role for SEZ6L2 sequence variations in the susceptibility to ASD.

Subject headings

MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Psykiatri (hsv//swe)
MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Psychiatry (hsv//eng)

Keyword

Case-Control Studies
Child
Child Development Disorders
Pervasive
Genetics
Chromosomes
Human
Pair 16
Genetics
Female
Genetic Association Studies
Genetic Variation
Genetics
Population
Genome
Human
Genetics
Humans
Male
Membrane Proteins
Genetics
Pedigree

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ref (subject category)
art (subject category)

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MEDICAL AND HEALTH SCIENCES: MEDICAL AND HEAL ...; and Clinical Medicin ...; and Psychiatry

Articles in the publication: PLoS One

By the university: University of Gothenburg; Lund University

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