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Autism, susceptibility to, X-linked 5(AUTSX5)

MedGen UID:
477069
Concept ID:
C3275438
Finding
Synonym: AUTSX5
 
Gene (location): RPL10 (Xq28)
 
Monarch Initiative: MONDO:0010449
OMIM®: 300847

Definition

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. [from OMIM]

Recent clinical studies

Etiology

Srivastava S, Cohen JS, Vernon H, Barañano K, McClellan R, Jamal L, Naidu S, Fatemi A
Ann Neurol 2014 Oct;76(4):473-83. Epub 2014 Aug 30 doi: 10.1002/ana.24251. PMID: 25131622
Psoni S, Sofocleous C, Traeger-Synodinos J, Kitsiou-Tzeli S, Kanavakis E, Fryssira-Kanioura H
Pediatr Res 2010 May;67(5):551-6. doi: 10.1203/PDR.0b013e3181d4ecf7. PMID: 20098342
Fisher SE, Francks C, McCracken JT, McGough JJ, Marlow AJ, MacPhie IL, Newbury DF, Crawford LR, Palmer CG, Woodward JA, Del'Homme M, Cantwell DP, Nelson SF, Monaco AP, Smalley SL
Am J Hum Genet 2002 May;70(5):1183-96. Epub 2002 Mar 28 doi: 10.1086/340112. PMID: 11923911Free PMC Article

Diagnosis

Saldarriaga W, Payán-Gómez C, González-Teshima LY, Rosa L, Tassone F, Hagerman RJ
J Dev Behav Pediatr 2020 Dec;41(9):724-728. doi: 10.1097/DBP.0000000000000850. PMID: 32947579
Srivastava S, Cohen JS, Vernon H, Barañano K, McClellan R, Jamal L, Naidu S, Fatemi A
Ann Neurol 2014 Oct;76(4):473-83. Epub 2014 Aug 30 doi: 10.1002/ana.24251. PMID: 25131622
Carter MT, Nikkel SM, Fernandez BA, Marshall CR, Noor A, Lionel AC, Prasad A, Pinto D, Joseph-George AM, Noakes C, Fairbrother-Davies C, Roberts W, Vincent J, Weksberg R, Scherer SW
Clin Genet 2011 Nov;80(5):435-43. Epub 2010 Nov 29 doi: 10.1111/j.1399-0004.2010.01578.x. PMID: 21114665
Shibayama A, Cook EH Jr, Feng J, Glanzmann C, Yan J, Craddock N, Jones IR, Goldman D, Heston LL, Sommer SS
Am J Med Genet B Neuropsychiatr Genet 2004 Jul 1;128B(1):50-3. doi: 10.1002/ajmg.b.30016. PMID: 15211631
Fisher SE, Francks C, McCracken JT, McGough JJ, Marlow AJ, MacPhie IL, Newbury DF, Crawford LR, Palmer CG, Woodward JA, Del'Homme M, Cantwell DP, Nelson SF, Monaco AP, Smalley SL
Am J Hum Genet 2002 May;70(5):1183-96. Epub 2002 Mar 28 doi: 10.1086/340112. PMID: 11923911Free PMC Article

Therapy

Srivastava S, Cohen JS, Vernon H, Barañano K, McClellan R, Jamal L, Naidu S, Fatemi A
Ann Neurol 2014 Oct;76(4):473-83. Epub 2014 Aug 30 doi: 10.1002/ana.24251. PMID: 25131622

Prognosis

Al-Mubarak B, Abouelhoda M, Omar A, AlDhalaan H, Aldosari M, Nester M, Alshamrani HA, El-Kalioby M, Goljan E, Albar R, Subhani S, Tahir A, Asfahani S, Eskandrani A, Almusaiab A, Magrashi A, Shinwari J, Monies D, Al Tassan N
Sci Rep 2017 Jul 18;7(1):5679. doi: 10.1038/s41598-017-06033-1. PMID: 28720891Free PMC Article
Srivastava S, Cohen JS, Vernon H, Barañano K, McClellan R, Jamal L, Naidu S, Fatemi A
Ann Neurol 2014 Oct;76(4):473-83. Epub 2014 Aug 30 doi: 10.1002/ana.24251. PMID: 25131622

Clinical prediction guides

Saldarriaga W, Payán-Gómez C, González-Teshima LY, Rosa L, Tassone F, Hagerman RJ
J Dev Behav Pediatr 2020 Dec;41(9):724-728. doi: 10.1097/DBP.0000000000000850. PMID: 32947579
Nguyen TA, Wu K, Pandey S, Lehr AW, Li Y, Bemben MA, Badger JD 2nd, Lauzon JL, Wang T, Zaghloul KA, Thurm A, Jain M, Lu W, Roche KW
Neuron 2020 Jun 3;106(5):759-768.e7. Epub 2020 Apr 2 doi: 10.1016/j.neuron.2020.03.008. PMID: 32243781Free PMC Article
Al-Mubarak B, Abouelhoda M, Omar A, AlDhalaan H, Aldosari M, Nester M, Alshamrani HA, El-Kalioby M, Goljan E, Albar R, Subhani S, Tahir A, Asfahani S, Eskandrani A, Almusaiab A, Magrashi A, Shinwari J, Monies D, Al Tassan N
Sci Rep 2017 Jul 18;7(1):5679. doi: 10.1038/s41598-017-06033-1. PMID: 28720891Free PMC Article
Fisher SE, Francks C, McCracken JT, McGough JJ, Marlow AJ, MacPhie IL, Newbury DF, Crawford LR, Palmer CG, Woodward JA, Del'Homme M, Cantwell DP, Nelson SF, Monaco AP, Smalley SL
Am J Hum Genet 2002 May;70(5):1183-96. Epub 2002 Mar 28 doi: 10.1086/340112. PMID: 11923911Free PMC Article

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