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Phenotypic characterization of seven individuals with Marbach-Schaaf neurodevelopmental syndrome

dc.rights.licenseopenen_US
dc.contributor.authorMARBACH, Felix
dc.contributor.authorLIPSKA-ZIETKIEWICZ, Beata S.
dc.contributor.authorKNUROWSKA, Agata
hal.structure.identifierLaboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]
dc.contributor.authorMICHAUD, Vincent
IDREF: 243713878
hal.structure.identifierLaboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]
dc.contributor.authorMARGOT, Henri
dc.contributor.authorLESPINASSE, James
dc.contributor.authorTRAN MAU THEM, Frederic
dc.contributor.authorCOUBES, Christine
dc.contributor.authorPARK, Joohyun
dc.contributor.authorGROSCH, Sarah
dc.contributor.authorROGGIA, Cristiana
dc.contributor.authorGRASSHOFF, Ute
dc.contributor.authorKALSNER, Louisa
dc.contributor.authorDENOMME-PICHON, Anne-Sophie
dc.contributor.authorAFENJAR, Alexandra
dc.contributor.authorHERON, Benedicte
dc.contributor.authorKEREN, Boris
dc.contributor.authorCARO, Pilar
dc.contributor.authorSCHAAF, Christian P.
dc.date.accessioned2022-10-18T09:54:04Z
dc.date.available2022-10-18T09:54:04Z
dc.date.issued2022-09
dc.identifier.issn1552-4833 (Electronic) 1552-4825 (Linking)en_US
dc.identifier.urihttps://oskar-bordeaux.fr/handle/20.500.12278/170059
dc.description.abstractEnWe present the phenotypes of seven previously unreported patients with Marbach-Schaaf neurodevelopmental syndrome, all carrying the same recurrent heterozygous missense variant c.1003C>T (p.Arg335Trp) in PRKAR1B. Clinical features of this cohort include global developmental delay and reduced sensitivity to pain, as well as behavioral anomalies. Only one of the seven patients reported here was formally diagnosed with autism spectrum disorder (ASD), while ASD-like features were described in others, overall indicating a lower prevalence of ASD in Marbach-Schaaf neurodevelopmental syndrome than previously assumed. The clinical spectrum of the current cohort is similar to that reported in the initial publication, delineating a complex developmental disorder with behavioral and neurologic features. PRKAR1B encodes the regulatory subunit R1beta of the protein kinase A complex (PKA), and is expressed in the adult and embryonal central nervous system in humans. PKA is crucial to a plethora of cellular signaling pathways, and its composition of different regulatory and catalytic subunits is cell-type specific. We discuss potential molecular disease mechanisms underlying the patients' phenotypes with respect to the different known functions of PKA in neurons, and the phenotypes of existing R1beta-deficient animal models.
dc.language.isoENen_US
dc.rightsAttribution-NonCommercial 3.0 United States*
dc.rights.urihttp://creativecommons.org/licenses/by-nc/3.0/us/*
dc.subject.enAutism spectrum disorder
dc.subject.enGlobal developmental delay
dc.subject.enNeurodevelopmental disorder
dc.subject.enPain insensitivity
dc.subject.enPRKAR1B
dc.subject.enProtein kinase a complex
dc.title.enPhenotypic characterization of seven individuals with Marbach-Schaaf neurodevelopmental syndrome
dc.typeArticle de revueen_US
dc.identifier.doi10.1002/ajmg.a.62884en_US
dc.subject.halSciences du Vivant [q-bio]/Santé publique et épidémiologieen_US
dc.identifier.pubmed35789103en_US
bordeaux.journalAmerican Journal of Medical Genetics Part Aen_US
bordeaux.page2627-2636en_US
bordeaux.volume188en_US
bordeaux.hal.laboratoriesMaladies Rares : Génétique et Métabolisme (MRGM) - UMR 1211en_US
bordeaux.issue9en_US
bordeaux.institutionUniversité de Bordeauxen_US
bordeaux.institutionINSERMen_US
bordeaux.peerReviewedouien_US
bordeaux.inpressnonen_US
hal.identifierhal-03819128
hal.version1
hal.date.transferred2022-10-18T09:54:22Z
hal.exporttrue
dc.rights.ccPas de Licence CCen_US
bordeaux.COinSctx_ver=Z39.88-2004&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.jtitle=American%20Journal%20of%20Medical%20Genetics%20Part%20A&rft.date=2022-09&rft.volume=188&rft.issue=9&rft.spage=2627-2636&rft.epage=2627-2636&rft.eissn=1552-4833%20(Electronic)%201552-4825%20(Linking)&rft.issn=1552-4833%20(Electronic)%201552-4825%20(Linking)&rft.au=MARBACH,%20Felix&LIPSKA-ZIETKIEWICZ,%20Beata%20S.&KNUROWSKA,%20Agata&MICHAUD,%20Vincent&MARGOT,%20Henri&rft.genre=article


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