The reference OMIM entry for this protein is 300847

Autism, susceptibility to, x-linked 5; autsx5

A number sign (#) is used with this entry because X-linked autism-5 (AUTSX5) is associated with mutation in the RPL10 gene (312173).

DESCRIPTION

Autism, the prototypic pervasive developmental disorder (PDD), is usually apparent by 3 years of age. It is characterized by a triad of limited or absent verbal communication, a lack of reciprocal social interaction or responsiveness, and restricted, stereotypic, and ritualized patterns of interests and behavior (Bailey et al., 1996; Risch et al., 1999). 'Autism spectrum disorder,' sometimes referred to as ASD, is a broader phenotype encompassing the less severe disorders Asperger syndrome (see ASPG1; 608638) and pervasive developmental disorder, not otherwise specified (PDD-NOS). 'Broad autism phenotype' includes individuals with some symptoms of autism, but who do not meet the full criteria for autism or other disorders. Mental retardation coexists in approximately two-thirds of individuals with ASD, except for Asperger syndrome, in which mental retardation is conspicuously absent (Jones et al., 2008). Genetic studies in autism often include family members with these less stringent diagnoses (Schellenberg et al., 2006). For a discussion of genetic heterogeneity of autism, see 209850.

CLINICAL FEATURES

Klauck et al. (2006) identified 2 families each with 2 autistic sibs carrying mutations in the RPL10 gene (AUTSX5). The first family, labeled 42, comprised dizygotic twin brothers. The pregnancy was complicated by intermittent bleeding between weeks' 14 and 20 of gestation. At 31 weeks' gestation, the twins were delivered by cesarean section. They were evaluated at 8 years of age. Twin 1 had a birth weight of 1400 g, had severe intraventricular hemorrhage in the right parietal lobe, and developed left-sided hemiplegia and seizures. He met full criteria for autism on the Autism Diagnostic Instrument-Revised (ADI-R) and Autism Diagnostic Observation Schedule (ADOS) evaluations, and his IQ was between 20 and 34. Cranial computed tomography (CCT) revealed a 'chicken eye big porus' at the frontal lobe region, medium-to-higher grade dilation of the right ventricle, and low-to-medium sized dilation of the left ventricle. The porus was taken as a residuum of the perinatal hemorrhage. The second twin had a birth weight of 970 g. He did not suffer intraventricular hemorrhage but was clearly developmentally delayed at 12 months and developed stereotypic behaviors and repetitive manners. At 7 years of age he was placed in a school for language delayed children due to his autistic behavior of delayed communication and social interaction although he did not show gross language delay. He met the diagnosis of autism according to ADI-R and ADOS criteria with a verbal IQ of 82 and a performance IQ of 80. There was a maternal family history of both schizophrenia and seizures; however, none of these persons could be tested molecularly. The second family reported by Klauck et al. (2006), which was labeled family 277, comprised 2 brothers with autistic disorder, age 5 and 3 years at time of assessment. Both had classic features of autism. The older brother had an IQ estimated between 50 and 69; the younger brother was diagnosed with autism based on the ADOS screen but had not had formal IQ testing nor could the ADI-R be administered due to his age and language delay. Chiocchetti et al. (2011) identified a patient from a German family carrying an RPL10 mutation. When evaluated at 15 years of age, ... More on the omim web site

Subscribe to this protein entry history

June 29, 2020: Protein entry updated
Automatic update: OMIM entry 300847 was added.

Oct. 19, 2018: Additional information
Initial protein addition to the database. This entry was referenced in Bryk and co-workers. (2017).