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© Christelle Durand
Microscopie d'un neurone. Le marquage jaune montre les synapses.
Scientific Fields
Diseases
Organisms
Applications
Technique

Published in BMC medical genetics - 03 Dec 2013

Scheid I, Maruani A, Huguet G, Leblond CS, Nygren G, Anckarsäter H, Beggiato A, Rastam M, Amsellem F, Gillberg IC, Elmaleh M, Leboyer M, Gillberg C, Betancur C, Coleman M, Hama H, Cook EH, Bourgeron T, Delorme R

Link to Pubmed [PMID] – 24299421

BMC Med. Genet. 2013;14:124

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.

http://www.ncbi.nlm.nih.gov/pubmed/24299421