Title |
Heterozygous FA2H mutations in autism spectrum disorders
|
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Published in |
BMC Medical Genomics, December 2013
|
DOI | 10.1186/1471-2350-14-124 |
Pubmed ID | |
Authors |
Isabelle Scheid, Anna Maruani, Guillaume Huguet, Claire S Leblond, Gudrun Nygren, Henrik Anckarsäter, Anita Beggiato, Maria Rastam, Fréderique Amsellem, I Carina Gillberg, Monique Elmaleh, Marion Leboyer, Christopher Gillberg, Catalina Betancur, Mary Coleman, Hiroko Hama, Edwin H Cook, Thomas Bourgeron, Richard Delorme |
Abstract |
Widespread abnormalities in white matter development are frequently reported in cases of autism spectrum disorders (ASD) and could be involved in the disconnectivity suggested in these disorders. Homozygous mutations in the gene coding for fatty-acid 2-hydroxylase (FA2H), an enzyme involved in myelin synthesis, are associated with complex leukodystrophies, but little is known about the functional impact of heterozygous FA2H mutations. We hypothesized that rare deleterious heterozygous mutations of FA2H might constitute risk factors for ASD. |
X Demographics
Geographical breakdown
Country | Count | As % |
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Unknown | 2 | 100% |
Demographic breakdown
Type | Count | As % |
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Members of the public | 1 | 50% |
Practitioners (doctors, other healthcare professionals) | 1 | 50% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
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Netherlands | 1 | 2% |
Belgium | 1 | 2% |
Unknown | 52 | 96% |
Demographic breakdown
Readers by professional status | Count | As % |
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Student > Ph. D. Student | 11 | 20% |
Researcher | 9 | 17% |
Student > Master | 7 | 13% |
Student > Bachelor | 5 | 9% |
Student > Postgraduate | 5 | 9% |
Other | 5 | 9% |
Unknown | 12 | 22% |
Readers by discipline | Count | As % |
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Medicine and Dentistry | 9 | 17% |
Agricultural and Biological Sciences | 8 | 15% |
Neuroscience | 8 | 15% |
Psychology | 7 | 13% |
Biochemistry, Genetics and Molecular Biology | 3 | 6% |
Other | 3 | 6% |
Unknown | 16 | 30% |