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1.	Nava, C, et al. (author) Analysis of the chromosome X exome in patients with autism spectrum disorders identified novel candidate genes, including TMLHE. 2012 In: Translational psychiatry. - : Springer Science and Business Media LLC. - 2158-3188. ; 2 Journal article (peer-reviewed)abstract The striking excess of affected males in autism spectrum disorders (ASD) suggests that genes located on chromosome X contribute to the etiology of these disorders. To identify new X-linked genes associated with ASD, we analyzed the entire chromosome X exome by next-generation sequencing in 12 unrelated families with two affected males. Thirty-six possibly deleterious variants in 33 candidate genes were found, including PHF8 and HUWE1, previously implicated in intellectual disability (ID). A nonsense mutation in TMLHE, which encodes the ɛ-N-trimethyllysine hydroxylase catalyzing the first step of carnitine biosynthesis, was identified in two brothers with autism and ID. By screening the TMLHE coding sequence in 501 male patients with ASD, we identified two additional missense substitutions not found in controls and not reported in databases. Functional analyses confirmed that the mutations were associated with a loss-of-function and led to an increase in trimethyllysine, the precursor of carnitine biosynthesis, in the plasma of patients. This study supports the hypothesis that rare variants on the X chromosome are involved in the etiology of ASD and contribute to the sex-ratio disequilibrium.

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Type of publication: journal article (1)

Type of content: peer-reviewed (1)

Author/Editor: Cohen, D (1); Gillberg, Christophe ... (1); Leboyer, Marion (1); Gerard, M (1); Bourgeron, Thomas (1); Delorme, Richard (1); show more...; Laurent, C. (1); Brice, A (1); Whalen, S (1); Gilleron, M (1); Mignot, C (1); Huguet, G (1); Leheup, B (1); Lamari, F. (1); Keren, B (1); Afenjar, A (1); Heron, D (1); Nava, C (1); Faudet, A (1); Depienne, C (1); Rastetter, A (1); Bouteiller, D (1); Jacquette, A (1); Périsse, D (1); Dupuits, C (1); Gautier, C (1); Caillet, S (1); show less...

University: University of Gothenburg (1)

Language: English (1)

Research subject (UKÄ/SCB): Medical and Health Sciences (1)

Year: 2012 (1)

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