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Review

RAI1 gene mutations: mechanisms of Smith–Magenis syndrome

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Pages 85-94 | Published online: 03 Nov 2017

References

  • SmithACMDeletion of the 17 short arm in 2 patients with facial clefts and congenital heart-diseaseAm J Hum Genet1982326A146
  • SmithACMagenisREElseaSHOverview of Smith-Magenis syndromeJ Assoc Genet Technol200531416316716354942
  • GreenbergFGuzzettaVMontes de Oca-LunaRMolecular analysis of the Smith-Magenis syndrome: a possible contiguous-gene syndrome associated with del(17)(p11.2)Am J Hum Genet1991496120712181746552
  • ElseaSHGirirajanSSmith–Magenis syndromeEur J Hum Genet200816441242118231123
  • SmithACMcGavranLRobinsonJInterstitial deletion of (17) (p11.2p11.2) in nine patientsAm J Med Genet19862433934142425619
  • SlagerRENewtonTLVlangosCNFinucaneBElseaSHMutations in RAI1 associated with Smith–Magenis syndromeNat Genet200333446646812652298
  • ZoriRTLupskiJRHejuZClinical, cytogenetic, and molecular evidence for an infant with Smith-Magenis syndrome born from a mother having a mosaic 17p11.2p12 deletionAm J Med Genet19934745045118256814
  • CampbellIMYuanBRobberechtCParental somatic mosaicism is underrecognized and influences recurrence risk of genomic disordersAm J Hum Genet201495217318225087610
  • AcquavivaFSanaMEDella MonicaMFirst evidence of Smith-Magenis syndrome in mother and daughter due to a novel RAI mutationAm J Med Genet A2017173123123827683195
  • JuyalRCFigueraLEHaugeXMolecular analyses of 17p11.2 deletions in 62 Smith-Magenis syndrome patientsAm J Hum Genet199658599810078651284
  • ChenKSManianPKoeuthTHomologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndromeNat Genet19971721541639326934
  • BiWSaifiGMShawCJMutations of RAI1, a PHD-containing protein, in nondeletion patients with Smith-Magenis syndromeHum Genet2004115651552415565467
  • GirirajanSElsasLJDevriendtKElseaSHRAI1 variations in Smith-Magenis syndrome patients without 17p11.2 deletionsJ Med Genet2005421182082815788730
  • EdelmanEAGirirajanSFinucaneBGender, genotype, and phenotype differences in Smith-Magenis syndrome: a meta-analysis of 105 casesClin Genet200771654055017539903
  • GirirajanSVlangosCNSzomjuBBGenotype-phenotype correlation in Smith-Magenis syndrome: evidence that multiple genes in 17p11.2 contribute to the clinical spectrumGenet Med20068741742716845274
  • RicardGMolinaJChrastJPhenotypic consequences of copy number variation: insights from Smith-Magenis and Potocki-Lupski syndrome mouse modelsPLoS Biol2010811e100054321124890
  • YanJBiWLupskiJRPenetrance of craniofacial anomalies in mouse models of Smith-Magenis syndrome is modified by genomic sequence surrounding Rai1: not all null alleles are alikeAm J Hum Genet200780351852517273973
  • GreenbergFLewisRAPotockiLMulti-disciplinary clinical study of Smith-Magenis syndrome (deletion 17p11.2)Am J Med Genet19966232472548882782
  • DykensEMMSmithACCDistinctiveness and correlates of maladaptive behaviour in children and adolescents with Smith-Magenis syndromeJ Intellect Disabil Res199842Pt 648148910030444
  • SmithACDykensEGreenbergFBehavioral phenotype of Smith-Magenis syndrome (del 17p11.2)Am J Med Genet19988121791859613859
  • SmithACGropmanALBailey-WilsonJEHypercholesterolemia in children with Smith-Magenis syndrome: del (17) (p11.2p11.2)Genet Med20024311812512180145
  • DubourgCBonnet-BrilhaultFToutainAIdentification of nine new RAI1-truncating mutations in Smith-Magenis syndrome patients without 17p11.2 deletionsMol Syndromol201452576424715852
  • FinucaneBMKonarDHaas-GivlerBKurtzMBScottCIJrThe spasmodic upper-body squeeze: a characteristic behavior in Smith-Magenis syndromeDev Med Child Neurol199436178838132119
  • TruongHTDuddingTBlanchardCLElseaSHFrameshift mutation hotspot identified in Smith-Magenis syndrome: case report and review of literatureBMC Med Genet201011114220932317
  • SmithACMGropmanASmith-Magenis syndrome3rd edCassidySBAllansonJEManagement of Genetic SyndromesHoboken, NJJohn Wiley & Sons, Inc2010739768
  • AllansonJEGreenbergFSmithACThe face of Smith-Magenis syndrome: a subjective and objective studyJ Med Genet199936539439710353786
  • TomonaNSmithACGuadagniniJPHartTCCraniofacial and dental phenotype of Smith–Magenis syndromeAm J Med Genet A2006140A2325562561
  • SarimskiKCommunicative competence and behavioural phenotype in children with Smith-Magenis syndromeGenet Couns200415334735515517828
  • GropmanALDuncanWCSmithACNeurologic and developmental features of the Smith-Magenis syndrome (del 17p11.2)Pediatr Neurol200634533735016647992
  • WoltersPLGropmanALMartinSCNeurodevelopment of children under 3 years of age with Smith-Magenis syndromePediatr Neurol200941425025819748044
  • HildenbrandHLSmithACAnalysis of the sensory profile in children with Smith-Magenis syndromePhys Occup Ther Pediatr2012321486521599572
  • LajeGMorseRRichterWBallJPaoMSmithACAutism spectrum features in Smith-Magenis syndromeAm J Med Genet C Semin Med Genet20101544456462
  • ArronKOliverCMossJBergKBurbidgeCThe prevalence and phenomenology of self-injurious and aggressive behaviour in genetic syndromesJ Intellect Disabil Res201155210912020977515
  • SloneemJOliverCUdwinOWoodcockKAPrevalence, phenomenology, aetiology and predictors of challenging behaviour in Smith-Magenis syndromeJ Intellect Disabil Res201155213815121199049
  • FinucaneBDirriglKHSimonEWCharacterization of self-injurious behaviors in children and adults with Smith-Magenis syndromeAm J Ment Retard20011061525811246713
  • AlaimoJTBartonLVMullegamaSVWillsRDFosterRHElseaSHIndividuals with Smith-Magenis syndrome display profound neurodevelopmental behavioral deficiencies and exhibit food-related behaviors equivalent to Prader-Willi syndromeRes Dev Disabil201547273826323055
  • BurnsBSchmidtKWilliamsSRKimSGirirajanSElseaSHRai1 haploinsufficiency causes reduced Bdnf expression resulting in hyperphagia, obesity and altered fat distribution in mice and humans with no evidence of metabolic syndromeHum Mol Genet201019204026404220663924
  • FosterRHKozachekSSternMElseaSHCaring for the caregivers: an investigation of factors related to well-being among parents caring for a child with Smith-Magenis syndromeJ Genet Couns201019218719820151318
  • PotockiLGlazeDTanDXCircadian rhythm abnormalities of melatonin in Smith-Magenis syndromeJ Med Genet200037642843310851253
  • De LeersnyderHDe BloisMCClaustratBInversion of the circadian rhythm of melatonin in the Smith-Magenis syndromeJ Pediatr2001139111111611445803
  • BoonePMReiterRJGlazeDGTanDXLupskiJRPotockiLAbnormal circadian rhythm of melatonin in Smith-Magenis syndrome patients with RAI1 point mutationsAm J Med Genet A2011155820242027
  • BoudreauEAJohnsonKPJackmanARReview of disrupted sleep patterns in Smith-Magenis syndrome and normal melatonin secretion in a patient with an atypical interstitial 17p11.2 deletionAm J Med Genet A2009149713821391
  • SchoumansJStaafJJönssonGDetection and delineation of an unusual 17p11.2 deletion by array-CGH and refinement of the Smith-Magenis syndrome minimum deletion to approximately 650 kbEur J Med Genet200548329030016179224
  • VlangosCNYimDKElseaSHRefinement of the Smith-Magenis syndrome critical region to approximately 950kb and assessment of 17p11.2 deletions. Are all deletions created equally?Mol Genet Metab200379213414112809645
  • VlangosCNWilsonMBlancatoJSmithACElseaSHDiagnostic FISH probes for del(17)(p11.2p11.2) associated with Smith-Magenis syndrome should contain the RAI1 geneAm J Med Genet A2005132A327828215690371
  • LiburdNGhoshMRiazuddinSNovel mutations of MYO15A associated with profound deafness in consanguineous families and moderately severe hearing loss in a patient with Smith-Magenis syndromeHum Genet2001109553554111735029
  • WangALiangYFridellRAAssociation of unconventional myosin MYO15 mutations with human nonsyndromic deafness DFNB3Science19982805368144714519603736
  • CastigliEWilsonSAGaribyanLTACI is mutant in common variable immunodeficiency and IgA deficiencyNat Genet200537882983416007086
  • NickersonMLWarrenMBToroJRMutations in a novel gene lead to kidney tumors, lung wall defects, and benign tumors of the hair follicle in patients with the Birt-Hogg-Dubé syndromeCancer Cell20022215716412204536
  • DardourLVerleyenPLesageKHolvoetMDevriendtKBilateral renal tumors in an adult man with Smith-Magenis syndrome: the role of the FLCN geneEur J Med Genet2016591049950127633572
  • CarneyGWeiSRizzoWBSjögren-Larsson syndrome: seven novel mutations in the fatty aldehyde dehydrogenase gene ALDH3A2Hum Mutat2004242186
  • ImaiYSuzukiYMatsuiTTohyamaMWanakaATakagiTCloning of a retinoic acid-induced gene, GT1, in the embryonal carcinoma cell line P19: neuron-specific expression in the mouse brainBrain Res Mol Brain Res1995311–2197476016
  • WalzKCaratini-RiveraSBiWModeling del(17)(p11.2p11.2) and dup(17)(p11.2p11.2) contiguous gene syndromes by chromosome engineering in mice: phenotypic consequences of gene dosage imbalanceMol Cell Biol200323103646365512724422
  • BiWYanJShiXRai1 deficiency in mice causes learning impairment and motor dysfunction, whereas Rai1 heterozygous mice display minimal behavioral phenotypesHum Mol Genet200716151802181317517686
  • ToulouseARochefortDRousselJJooberRRouleauGAMolecular cloning and characterization of human RAI1, a gene associated with schizophreniaGenomics200382216217112837267
  • FragosoYDStoneyPNShearerKDExpression in the human brain of retinoic acid induced 1, a protein associated with neurobehav-ioural disordersBrain Struct Funct201522021195120324519454
  • SeranskiPHoffCRadelofURAI1 is a novel polyglutamine encoding gene that is deleted in Smith-Magenis syndrome patientsGene20012701–2697611404004
  • Vulto-van SilfhoutATRajamanickamSJensikPJMutations affecting the SAND domain of DEAF1 cause intellectual disability with severe speech impairment and behavioral problemsAm J Hum Genet201494564966124726472
  • FaqeihEAAl-OwainMColakDNovel homozygous DEAF1 variant suspected in causing white matter disease, intellectual disability, and microcephalyAm J Med Genet A2014164A61565157024668509
  • LuoTWagnerECrandallJEDrägerUCA retinoic-acid critical period in the early postnatal mouse brainBiol Psychiatry2004561297198015601608
  • ChenLTaoYSongFYuanXWangJSaffenDEvidence for genetic regulation of mRNA expression of the dosage-sensitive gene retinoic acid induced-1 (RAI1) in human brainSci Rep201661901026743651
  • BergerSICicconeCSimonKLExome analysis of Smith-Magenis-like syndrome cohort identifies de novo likely pathogenic variantsHum Genet2017136440942028213671
  • Carmona-MoraPEncinaCACanalesCPFunctional and cellular characterization of human Retinoic Acid Induced 1 (RAI1) mutations associated with Smith-Magenis SyndromeBMC Mol Biol20101116320738874
  • HuangWHGuenthnerCJXuJMolecular and neural functions of RAI1, the causal gene for Smith-Magenis syndromeNeuron201692239240627693255
  • GirirajanSTruongHTBlanchardCLElseaSHA functional network module for Smith-Magenis syndromeClin Genet200975436437419236431
  • WilliamsSRZiesDMullegamaSVGrotewielMSElseaSHSmithmagenis syndrome results in disruption of CLOCK gene transcription and reveals an integral role for RAI1 in the maintenance of circadian rhythmicityAm J Hum Genet201290694194922578325
  • DarvekarSJohnsenSSEriksenABJohansenTSjøttemEIdentification of two independent nucleosome-binding domains in the transcriptional co-activator SPBPBiochem J20124421657522081970
  • YunMWuJWorkmanJLLiBReaders of histone modificationsCell Res201121456457821423274
  • AtanesyanLGüntherVDichtlBGeorgievOSchaffnerWPolyglutamine tracts as modulators of transcriptional activation from yeast to mammalsBiol Chem20123931–2637022628299
  • VilbouxTCicconeCBlancatoJKMolecular analysis of the Retinoic Acid Induced 1 gene (RAI1) in patients with suspected smith-magenis syndrome without the 17p11.2 deletionPLoS One201168
  • BiWOhyamaTNakamuraHInactivation of Rai1 in mice recapitulates phenotypes observed in chromosome engineered mouse models for Smith-Magenis syndromeHum Mol Genet200514898399515746153
  • AlaimoJTHahnNCMullegamaSVElseaSHDietary regimens modify early onset of obesity in mice haploinsufficient for Rai1PLoS One201498e10507725127133
  • TahirRKennedyAElseaSHDickinsonAJRetinoic acid induced-1 (Rai1) regulates craniofacial and brain development in XenopusMech Dev20141339110424878353
  • ChenLMullegamaSVAlaimoJTElseaSHSmith-Magenis syndrome and its circadian influence on development, behavior, and obesity – own experienceDev Period Med201519214915626384114
  • CarneiroBTAraujoJFThe food-entrainable oscillator: a network of interconnected brain structures entrained by humoral signals?Chronobiol Int20092671273128919916831
  • NobleEEBillingtonCJKotzCMWangCThe lighter side of BDNFAm J Physiol Regul Integr Comp Physiol20113005R1053R106921346243
  • GrayJYeoGSCoxJJHyperphagia, severe obesity, impaired cognitive function, and hyperactivity associated with functional loss of one copy of the brain-derived neurotrophic factor (BDNF) geneDiabetes200655123366337117130481
  • JooberRBenkelfatCToulouseAAnalysis of 14 CAG repeat-containing genes in schizophreniaAm J Med Genet199988669469910581491
  • HayesSTureckiGBriseboisKCAG repeat length in RAI1 is associated with age at onset variability in spinocerebellar ataxia type 2 (SCA2)Hum Mol Genet20009121753175810915763
  • PotockiLBiWTreadwell-DeeringDCharacterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotypeAm J Hum Genet200780463364917357070
  • van der ZwaagBFrankeLPootMGene-network analysis identifies susceptibility genes related to glycobiology in autismPLoS One200945e532419492091
  • Carmona-MoraPWalzKRetinoic acid induced 1, RAI1: a dosage sensitive gene related to neurobehavioral alterations including autistic behaviorCurr Genomics201011860761721629438
  • RedinCGérardBLauerJEfficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencingJ Med Genet2014511172473625167861
  • ThakerVVEstevesKMTowneMCWhole exome sequencing identifies RAI1 mutation in a morbidly obese child diagnosed with ROHHAD syndromeJ Clin Endocrinol Metab201510051723173025781356
  • ChurbanovAYKarafetTMMorozovIVWhole exome sequencing reveals homozygous mutations in RAI1, OTOF, and SLC26A4 genes associated with nonsyndromic hearing loss in Altaian families (South Siberia)PLoS One2016114e015384127082237
  • BarnettCYazganOKuoHCWilliams syndrome transcription factor is critical for neural crest cell function in Xenopus laevisMech Dev20121299–1232433822691402
  • HittnerHMKingRARiccardiVMOculocutaneous albinoidism as a manifestation of reduced neural crest derivatives in the Prader-Willi syndromeAm J Ophthalmol19829433283376812426
  • KochilasLMerscher-GomezSLuMMThe role of neural crest during cardiac development in a mouse model of DiGeorge syndromeDev Biol2002251115716612413905
  • LimJHLuoTSargentTDFallonJRDevelopmental expression of Xenopus fragile X mental retardation-1 geneInt J Dev Biol200549898198416281176
  • RoperRJVanHornJFCainCCReevesRHA neural crest deficit in Down syndrome mice is associated with deficient mitotic response to Sonic hedgehogMech Dev20091263–421221919056491
  • WurdakHIttnerLMLangKSInactivation of TGFbeta signaling in neural crest stem cells leads to multiple defects reminiscent of DiGeorge syndromeGenes Dev200519553053515741317
  • LajeGBernertRMorseRPaoMSmithACPharmacological treatment of disruptive behavior in Smith-Magenis syndromeAm J Med Genet C Semin Med Genet2010154C446346820981776
  • PoissonANicolasACochatPBehavioral disturbance and treatment strategies in Smith-Magenis syndromeOrphanet J Rare Dis201510111126336863
  • De LeersnyderHBressonJLde BloisMCBeta 1-adrenergic antagonists and melatonin reset the clock and restore sleep in a circadian disorder, Smith-Magenis syndromeJ Med Genet2003401747812525548
  • LoviglioMNBeckCRWhiteJJIdentification of a RAI1-associated disease network through integration of exome sequencing, transcriptomics, and 3D genomicsGenome Med20168110527799067