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dc.contributor.authorLines, Matthew A.
dc.contributor.authorHuang, Lijia
dc.contributor.authorSchwartzentruber, Jeremy
dc.contributor.authorDouglas, Stuart L.
dc.contributor.authorLynch, Danielle C.
dc.contributor.authorBeaulieu, Chandree
dc.contributor.authorGuion-Almeida, Maria Leine
dc.contributor.authorZechi-Ceide, Roseli Maria
dc.contributor.authorGener, Blanca
dc.contributor.authorGillessen-Kaesbach, Gabriele
dc.contributor.authorNava, Caroline
dc.contributor.authorBaujat, Genevieve
dc.contributor.authorHorn, Denise
dc.contributor.authorKini, Usha
dc.contributor.authorCaliebe, Almuth
dc.contributor.authorAlanay, Yasemin
dc.contributor.authorUtine, Gulen Eda
dc.contributor.authorLev, Dorit
dc.contributor.authorKohlhase, Jurgen
dc.contributor.authorGrix, Arthur W.
dc.contributor.authorLohmann, Dietmar R.
dc.contributor.authorHehr, Ute
dc.contributor.authorBoehm, Detlef
dc.contributor.authorMajewski, Jacek
dc.contributor.authorBulman, Dennis E.
dc.contributor.authorWieczorek, Dagmar
dc.contributor.authorBoycott, Kym M.
dc.date.accessioned2019-12-10T10:38:19Z
dc.date.available2019-12-10T10:38:19Z
dc.date.issued2012
dc.identifier.issn0002-9297
dc.identifier.urihttps://doi.org/10.1016/j.ajhg.2011.12.023
dc.identifier.urihttp://hdl.handle.net/11655/14050
dc.description.abstractMandibulofacial dysostosis with microcephaly (MFDM) is a rare sporadic syndrome comprising craniofacial malformations, microcephaly, developmental delay, and a recognizable dysmorphic appearance. Major sequelae, including choanal atresia, sensorineural hearing loss, and cleft palate, each occur in a significant proportion of affected individuals. We present detailed clinical findings in 12 unrelated individuals with MFDM; these 12 individuals compose the largest reported cohort to date. To define the etiology of MFDM, we employed whole-exome sequencing of four unrelated affected individuals and identified heterozygous mutations or deletions of EFTUD2 in all four. Validation studies of eight additional individuals with MFDM demonstrated causative EFTUD2 mutations in all affected individuals tested. A range of EPTUD2-mutation types, including null alleles and frameshifts, is seen in MFDM, consistent with haploinsufficiency; segregation is de novo in all cases assessed to date. U5-116kD, the protein encoded by EFTUD2, is a highly conserved spliceosomal GTPase with a central regulatory role in catalytic splicing and post-splicing-complex disassembly. MFDM is the fast multiple-malformation syndrome attributed to a defect of the major spliceosome. Our findings significantly extend the range of reported spliceosomal phenotypes in humans and pave the way for further investigation in related conditions such as Treacher Collins syndrome.
dc.language.isoen
dc.publisherCell Press
dc.relation.isversionof10.1016/j.ajhg.2011.12.023
dc.rightsinfo:eu-repo/semantics/openAccess
dc.subjectGenetics & Heredity
dc.titleHaploinsufficiency Of A Spliceosomal Gtpase Encoded By Eftud2 Causes Mandibulofacial Dysostosis With Microcephaly
dc.typeinfo:eu-repo/semantics/article
dc.typeinfo:eu-repo/semantics/publishedVersion
dc.relation.journalAmerican Journal Of Human Genetics
dc.contributor.departmentÇocuk Sağlığı ve Hastalıkları
dc.identifier.volume90
dc.identifier.issue2
dc.identifier.startpage369
dc.identifier.endpage377
dc.description.indexWoS
dc.description.indexScopus


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