Further clinical and genetic evidence of ASC-1 complex dysfunction in congenital neuromuscular disease

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dc.authorid0000-0001-6930-7148
dc.contributor.authorMarais, Anett
dc.contributor.authorBertoli-Avella, Aida M.
dc.contributor.authorBeetz, Christian
dc.contributor.authorAltunoğlu, Umut
dc.contributor.authorAlhashem, Amal
dc.contributor.authorMohamed, Sarar
dc.contributor.authorAlghamdi, Abdulaziz
dc.contributor.authorWillems, Patrick
dc.contributor.authorTsoutsou, Eirini
dc.contributor.authorFryssira, Helena
dc.contributor.authorPons, Roser
dc.contributor.authorAlmarzooq, Reem
dc.contributor.authorYüksel Karatoprak, Elif
dc.contributor.authorAyaz, Akif
dc.contributor.authorÜnverengil, Gökçen
dc.contributor.authorCalvo, Maria
dc.contributor.authorYüksel, Zafer
dc.contributor.authorBauer, Peter
dc.date.accessioned2022-07-04T06:40:09Z
dc.date.available2022-07-04T06:40:09Z
dc.date.issued2022
dc.departmentİstanbul Medipol Üniversitesi, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü, Tıbbi Genetik Ana Bilim Dalı
dc.description.abstractTranscriptional coregulators modulate the efficiency of transcription factors. Bi-allelic variants in TRIP4 and ASCC1, two genes that encode members of the tetrameric coregulator ASC-1, have recently been associated with congenital bone fractures, hypotonia, and muscular dystrophy in a total of 22 unrelated families. Upon exome sequencing and data repository mining, we identified six new patients with pathogenic homozygous variants in either TRIP4 (n = 4, two novel variants) or ASCC1 (n = 2, one novel variant). The associated clinical findings confirm and extend previous descriptions. Considering all patients reported to date, we provide supporting evidence suggesting that ASCC1-related disease has a more severe phenotype compared to TRIP4-related disorder regarding higher incidence of perinatal bone fractures and shorter survival.
dc.description.sponsorshipPrince Abdullah Ben Khalid Celiac Disease Research Chairen_US
dc.description.sponsorshipKing Saud Universityen_US
dc.identifier.citationMarais, A., Bertoli-Avella, A. M., Beetz, C., Altunoğlu, U., Alhashem, A., Mohamed, S. ... Bauer, P. (2022). Further clinical and genetic evidence of ASC-1 complex dysfunction in congenital neuromuscular disease. European Journal of Medical Genetics, 65(8). http://doi.org/10.1016/j.ejmg.2022.104537
dc.identifier.doi10.1016/j.ejmg.2022.104537
dc.identifier.issn1769-7212
dc.identifier.issn1878-0849
dc.identifier.issue8
dc.identifier.pmid35690317
dc.identifier.scopus2-s2.0-85132335769
dc.identifier.scopusqualityQ2
dc.identifier.urihttp://doi.org/10.1016/j.ejmg.2022.104537
dc.identifier.urihttps://hdl.handle.net/20.500.12511/9556
dc.identifier.volume65
dc.identifier.wos000836287900003en_US
dc.identifier.wosqualityN/A
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.institutionauthorAyaz, Akif
dc.language.isoen
dc.publisherElsevier Masson s.r.l.
dc.relation.ispartofEuropean Journal of Medical Geneticsen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı
dc.rightsinfo:eu-repo/semantics/embargoedAccess
dc.subjectASC-1
dc.subjectASCC1
dc.subjectMyopathy
dc.subjectSpinal Muscular Atrophy
dc.subjectTranscriptional Coregulator
dc.subjectTRIP4
dc.titleFurther clinical and genetic evidence of ASC-1 complex dysfunction in congenital neuromuscular disease
dc.typeArticle

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