A 24-generation-old founder mutation impairs splicing of RBBP8 in Pakistani families affected with Jawad syndrome

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dc.authorid0000-0001-6984-8526
dc.contributor.advisorNoegel, AA
dc.contributor.advisorNürnberg, P
dc.contributor.advisorHussain, MS
dc.contributor.authorKaygusuz, Emrah
dc.contributor.authorKhayyat, AIA
dc.contributor.authorAbdullah, U
dc.contributor.authorBudde, BS
dc.contributor.authorAsif, M
dc.contributor.authorAhmed, I
dc.contributor.authorMakhdoom, EUH
dc.contributor.authorSur-Erdem, I
dc.contributor.authorBaig, JM
dc.contributor.authorKhan, MMA
dc.contributor.authorToliat, MR
dc.contributor.authorBecker, C
dc.contributor.authorAnwar, H
dc.contributor.authorIqbal, M
dc.contributor.authorFischer, S
dc.contributor.authorJameel, M
dc.contributor.authorSher, M
dc.contributor.authorTariq, M
dc.contributor.authorMalik, NA
dc.contributor.authorHassan, MJ
dc.contributor.authorThiele, H
dc.contributor.authorTinschert, S
dc.contributor.authorEichinger, L
dc.contributor.authorHöning, S
dc.contributor.authorBaig, SM
dc.date.accessioned2021-09-17T08:01:44Z
dc.date.available2021-09-17T08:01:44Z
dc.date.issued2021en_US
dc.departmentFakülteler, Fen Edebiyat Fakültesi, Moleküler Biyoloji ve Genetik Bölümü
dc.description.abstractJawad syndrome is a multiple congenital anomaly and intellectual disability syndrome with mutation in RBBP8 reported only in two families. Here, we report on two new families from Pakistan and identified a previously reported variant in RBBP8, NM_002894.3:c.1808-1809delTA. We could show that this mutation impairs splicing resulting in two different abnormal transcripts. Finally, we could verify a shared haplotype among all four families and estimate the founder event to have occurred some 24 generations ago.en_US
dc.description.other2WOS:000673987000001en_US
dc.description.pubmedpublicationidPMID: 34270086en_US
dc.description.sponsorshipCenter for Molecular Medicine Cologne (CMMC), University of Cologne - 2635/8029/01 Center for Molecular Medicine Cologne (CMMC), University of Cologne - 2635/8326/01 Koeln Fortune Program, Faculty of Medicine, University of Cologne - 381/2020en_US
dc.identifier.citationKaygusuz, E., Khayyat, A. I. A., Abdullah, U., Budde, B. S., Asif, M., Ahmed, I., ... & Hussain, M. S. (2021). A 24‐generation‐old founder mutation impairs splicing of RBBP8 in Pakistani families affected with Jawad syndrome. Clinical Genetics.en_US
dc.identifier.doi10.1111/cge.14028
dc.identifier.endpage488en_US
dc.identifier.issn0009-9163
dc.identifier.issn1399-0004
dc.identifier.issue4en_US
dc.identifier.pmid34270086
dc.identifier.scopus2-s2.0-85110234298
dc.identifier.scopusqualityQ2
dc.identifier.startpage486en_US
dc.identifier.uri1399-0004
dc.identifier.urihttps://hdl.handle.net/11552/1987
dc.identifier.volume100en_US
dc.identifier.wosWOS:000673987000001
dc.identifier.wosqualityQ2
dc.indekslendigikaynakPubMed
dc.indekslendigikaynakScopus
dc.indekslendigikaynakWoS
dc.indekslendigikaynakWoS - Science Citation Index Expanded
dc.institutionauthorKaygusuz, Emrah
dc.language.isoen
dc.publisherWileyen_US
dc.relation.ispartofClinical Genetics
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccess
dc.titleA 24-generation-old founder mutation impairs splicing of RBBP8 in Pakistani families affected with Jawad syndrome
dc.typeLetter

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