Mutation and Expression Analyses of the RIbosomal Protein Gene RPLtO In an Extended German Sample of Patients With Autism Spectrum Disorder

摘要

Autism spectrum disorder (ASD) is a pervasive neurodevelopmen-tal disorder with early onset in childhood. Patients with ASD present with clinically heterogeneous manifestations and the disorder is genetically complex. Sibling studies have shown a herita-bility of up to 90%. Besides a deviant use or absence of language, patients show marked deficits in social interaction and restricted range of repetitive stereotypical behaviors. The prevalence of autism is approximately four times higher in males than in females suggesting the involvement of the X-chromosome. Genome-wide screens and studies on putatively associated genes could strengthen the hypothesis of an X-linked disorder [Shao et al., 2002; Yonan et al, 2003]. A mutation screen on Xq28 identified the ribosomal protein L10 gene (RPL10) as a candidate susceptibility gene for ASD. In a previous study, we identified two missense mutations in exon 7 of the RPL10 gene in two independent sib-pair families within a set of 345 patients [Klauck et al., 2006]. These mutations predict p.Leu206Met (NM_006013; the first base of the start codon counted as nt 1; C.616OA) and p.His213Gln (c.639C>G), respectively.