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dc.contributor.authorKumble, Smitha
dc.contributor.authorMarcos Alcalde, Íñigo 
dc.contributor.authorTümer, Zeynep
dc.date.accessioned2022-06-21T10:52:27Z
dc.date.available2022-06-21T10:52:27Z
dc.date.issued2021
dc.identifier.issn1059-7794spa
dc.identifier.urihttp://hdl.handle.net/10641/3016
dc.description.abstractDe novo variants in QRICH1 (Glutamine-rich protein 1) has recently been reported in 11 individuals with intellectual disability (ID). The function of QRICH1 is largely unknown but it is likely to play a key role in the unfolded response of endoplasmic reticulum stress through transcriptional control of proteostasis. In this study, we present 27 additional individuals and delineate the clinical and molecular spectrum of the individuals (n = 38) with QRICH1 variants. The main clinical features were mild to moderate developmental delay/ID (71%), nonspecific facial dysmorphism (92%) and hypotonia (39%). Additional findings included poor weight gain (29%), short stature (29%), autism spectrum disorder (29%), seizures (24%) and scoliosis (18%). Minor structural brain abnormalities were reported in 52% of the individuals with brain imaging. Truncating or splice variants were found in 28 individuals and 10 had missense variants. Four variants were inherited from mildly affected parents. This study confirms that heterozygous QRICH1 variants cause a neurodevelopmental disorder including short stature and expands the phenotypic spectrum to include poor weight gain, scoliosis, hypotonia, minor structural brain anomalies, and seizures. Inherited variants from mildly affected parents are reported for the first time, suggesting variable expressivity.spa
dc.language.isoengspa
dc.publisherHuman Mutation: Variation, Informatics and Diseasespa
dc.rightsAtribución-NoComercial-SinDerivadas 3.0 España*
dc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/3.0/es/*
dc.subjectQRICH1spa
dc.subjectIntellectual disabilityspa
dc.subjectVariantspa
dc.subjectHypotoniaspa
dc.subjectShort staturespa
dc.subjectVariable expressivityspa
dc.titleThe clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder.spa
dc.typejournal articlespa
dc.type.hasVersionSMURspa
dc.rights.accessRightsopen accessspa
dc.description.extent918 KBspa
dc.identifier.doi10.1002/humu.24308spa
dc.relation.publisherversionhttps://onlinelibrary.wiley.com/doi/10.1002/humu.24308spa


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