Wollnik, Bernd

[["dc.bibliographiccitation.firstpage","836"],["dc.bibliographiccitation.issue","4"],["dc.bibliographiccitation.journal","The American Journal of Human Genetics"],["dc.bibliographiccitation.lastpage","843"],["dc.bibliographiccitation.volume","105"],["dc.contributor.author","Moosa, Shahida"],["dc.contributor.author","Yamamoto, Guilherme L."],["dc.contributor.author","Garbes, Lutz"],["dc.contributor.author","Keupp, Katharina"],["dc.contributor.author","Beleza-Meireles, Ana"],["dc.contributor.author","Moreno, Carolina Araujo"],["dc.contributor.author","Valadares, Eugenia Ribeiro"],["dc.contributor.author","de Sousa, Sérgio B."],["dc.contributor.author","Maia, Sofia"],["dc.contributor.author","Saraiva, Jorge"],["dc.contributor.author","Honjo, Rachel S."],["dc.contributor.author","Kim, Chong Ae"],["dc.contributor.author","Cabral de Menezes, Hamilton"],["dc.contributor.author","Lausch, Ekkehart"],["dc.contributor.author","Lorini, Pablo Villavicencio"],["dc.contributor.author","Lamounier, Arsonval"],["dc.contributor.author","Carniero, Tulio Canella Bezerra"],["dc.contributor.author","Giunta, Cecilia"],["dc.contributor.author","Rohrbach, Marianne"],["dc.contributor.author","Janner, Marco"],["dc.contributor.author","Semler, Oliver"],["dc.contributor.author","Beleggia, Filippo"],["dc.contributor.author","Li, Yun"],["dc.contributor.author","Yigit, Gökhan"],["dc.contributor.author","Reintjes, Nadine"],["dc.contributor.author","Altmüller, Janine"],["dc.contributor.author","Nürnberg, Peter"],["dc.contributor.author","Cavalcanti, Denise P."],["dc.contributor.author","Zabel, Bernhard"],["dc.contributor.author","Warman, Matthew L."],["dc.contributor.author","Bertola, Debora R."],["dc.contributor.author","Wollnik, Bernd"],["dc.contributor.author","Netzer, Christian"],["dc.date.accessioned","2020-12-10T14:22:21Z"],["dc.date.available","2020-12-10T14:22:21Z"],["dc.date.issued","2019"],["dc.identifier.doi","10.1016/j.ajhg.2019.08.008"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/71587"],["dc.identifier.url","https://mbexc.uni-goettingen.de/literature/publications/19"],["dc.language.iso","en"],["dc.notes.intern","DOI Import GROB-354"],["dc.relation","EXC 2067: Multiscale Bioimaging"],["dc.relation.workinggroup","RG Wollnik"],["dc.title","Autosomal-Recessive Mutations in MESD Cause Osteogenesis Imperfecta"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.subtype","original_ja"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","622"],["dc.bibliographiccitation.issue","5"],["dc.bibliographiccitation.journal","American journal of human genetics"],["dc.bibliographiccitation.lastpage","632"],["dc.bibliographiccitation.volume","95"],["dc.contributor.author","Hussain, Muhammad Sajid"],["dc.contributor.author","Battaglia, Agatino"],["dc.contributor.author","Szczepanski, Sandra"],["dc.contributor.author","Kaygusuz, Emrah"],["dc.contributor.author","Toliat, Mohammad Reza"],["dc.contributor.author","Sakakibara, Shin-ichi"],["dc.contributor.author","Altmüller, Janine"],["dc.contributor.author","Thiele, Holger"],["dc.contributor.author","Nürnberg, Gudrun"],["dc.contributor.author","Moosa, Shahida"],["dc.contributor.author","Yigit, Gökhan"],["dc.contributor.author","Beleggia, Filippo"],["dc.contributor.author","Tinschert, Sigrid"],["dc.contributor.author","Clayton-Smith, Jill"],["dc.contributor.author","Vasudevan, Pradeep"],["dc.contributor.author","Urquhart, Jill E."],["dc.contributor.author","Donnai, Dian"],["dc.contributor.author","Fryer, Alan"],["dc.contributor.author","Percin, E. Ferda"],["dc.contributor.author","Brancati, Francesco"],["dc.contributor.author","Dobbie, Angus"],["dc.contributor.author","Smigiel, Robert"],["dc.contributor.author","Gillessen-Kaesbach, Gabriele"],["dc.contributor.author","Wollnik, Bernd"],["dc.contributor.author","Noegel, Angelika Anna"],["dc.contributor.author","Newman, William G."],["dc.contributor.author","Nürnberg, Peter"],["dc.date.accessioned","2017-09-07T11:45:24Z"],["dc.date.available","2017-09-07T11:45:24Z"],["dc.date.issued","2014"],["dc.description.abstract","Filippi syndrome is a rare, presumably autosomal-recessive disorder characterized by microcephaly, pre- and postnatal growth failure, syndactyly, and distinctive facial features, including a broad nasal bridge and underdeveloped alae nasi. Some affected individuals have intellectual disability, seizures, undescended testicles in males, and teeth and hair abnormalities. We performed homozygosity mapping and whole-exome sequencing in a Sardinian family with two affected children and identified a homozygous frameshift mutation, c.571dupA (p.Ile191Asnfs 6), in CKAP2L, encoding the protein cytoskeleton-associated protein 2-like (CKAP2L). The function of this protein was unknown until it was rediscovered in mice as Radmis (radial fiber and mitotic spindle) and shown to play a pivotal role in cell division of neural progenitors. Sanger sequencing of CKAP2L in a further eight unrelated individuals with clinical features consistent with Filippi syndrome revealed biallelic mutations in four subjects. In contrast to wild-type lymphoblastoid cell lines (LCLs), dividing LCLs established from the individuals homozygous for the c.571dupA mutation did not show CKAP2L at the spindle poles. Furthermore, in cells from the affected individuals, we observed an increase in the number of disorganized spindle microtubules owing to multipolar configurations and defects in chromosome segregation. The observed cellular phenotypes are in keeping with data from in vitro and in vivo knockdown studies performed in human cells and mice, respectively. Our findings show that loss-of-function mutations in CKAP2L are a major cause of Filippi syndrome."],["dc.identifier.doi","10.1016/j.ajhg.2014.10.008"],["dc.identifier.gro","3142020"],["dc.identifier.isi","000344845000013"],["dc.identifier.pmid","25439729"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/3656"],["dc.notes.intern","WoS Import 2017-03-10 / Funder: Koln Fortune; Center for Molecular Medicine Cologne"],["dc.notes.status","final"],["dc.notes.submitter","PUB_WoS_Import"],["dc.publisher","Cell Press"],["dc.relation.eissn","1537-6605"],["dc.relation.issn","0002-9297"],["dc.title","Mutations in CKAP2L, the Human Homo log of the Mouse Radmis Gene, Cause Filippi Syndrome"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.subtype","original"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","728"],["dc.bibliographiccitation.issue","3"],["dc.bibliographiccitation.journal","American Journal of Medical Genetics"],["dc.bibliographiccitation.lastpage","733"],["dc.bibliographiccitation.volume","170"],["dc.contributor.author","Yigit, Gökhan"],["dc.contributor.author","Wieczorek, Dagmar"],["dc.contributor.author","Boegershausen, Nina"],["dc.contributor.author","Beleggia, Filippo"],["dc.contributor.author","Moeller-Hartmann, Claudia"],["dc.contributor.author","Altmüller, Janine"],["dc.contributor.author","Thiele, Holger"],["dc.contributor.author","Nürnberg, Peter"],["dc.contributor.author","Wollnik, Bernd"],["dc.date.accessioned","2017-09-07T11:54:36Z"],["dc.date.available","2017-09-07T11:54:36Z"],["dc.date.issued","2016"],["dc.description.abstract","Using whole-exome sequencing, we identified a homozygous acceptor splice-site mutation in intron 6 of the KATNB1 gene in a patient from a consanguineous Turkish family who presented with congenital microcephaly, lissencephaly, short stature, polysyndactyly, and dental abnormalities. cDNA analysis revealed complete loss of the natural acceptor splice-site resulting either in the usage of an alternative, exonic acceptor splice-site inducing a frame-shift and premature protein truncation or, to a minor extent, in complete skipping of exon 7. Both effects most likely lead to complete loss of KATNB1 function. Homozygous and compound heterozygous mutations in KATNB1 have very recently been described as a cause of microcephaly with brain malformations and seizures. We extend the KATNB1 associated phenotype by describing a syndrome characterized by primordial dwarfism, lissencephaly, polysyndactyly, and dental anomalies, which is caused by a homozygous truncating KATNB1 mutation. (c) 2015 Wiley Periodicals, Inc."],["dc.identifier.doi","10.1002/ajmg.a.37484"],["dc.identifier.gro","3141719"],["dc.identifier.isi","000373098900028"],["dc.identifier.pmid","26640080"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/313"],["dc.notes.intern","WoS Import 2017-03-10"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","PUB_WoS_Import"],["dc.publisher","Wiley-blackwell"],["dc.relation.eissn","1552-4833"],["dc.relation.issn","1552-4825"],["dc.title","A Syndrome of Microcephaly, Short Stature, Polysyndactyly, and Dental Anomalies Caused by a Homozygous KATNB1 Mutation"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.subtype","original"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","580"],["dc.bibliographiccitation.issue","5"],["dc.bibliographiccitation.journal","Molecular Genetics & Genomic Medicine"],["dc.bibliographiccitation.lastpage","584"],["dc.bibliographiccitation.volume","5"],["dc.contributor.author","Moosa, Shahida"],["dc.contributor.author","Altmüller, Janine"],["dc.contributor.author","Lyngbye, Troels"],["dc.contributor.author","Christensen, Rikke"],["dc.contributor.author","Li, Yun"],["dc.contributor.author","Nürnberg, Peter"],["dc.contributor.author","Yigit, Gökhan"],["dc.contributor.author","Vogel, Ida"],["dc.contributor.author","Wollnik, Bernd"],["dc.date.accessioned","2018-04-23T11:49:11Z"],["dc.date.available","2018-04-23T11:49:11Z"],["dc.date.issued","2017"],["dc.description.abstract","Background Very recently, compound heterozygous loss‐of‐function mutations in TELO2 were shown to underlie the newly‐described You‐Hoover‐Fong syndrome. TELO2 forms part of the co‐chaperone triple T complex (TTT complex), which plays an important role in the maturation and stabilization of the phosphatidylinositol 3‐kinase‐related protein kinases (PIKKs). Patients with mutations in TELO2 present with microcephaly and associated intellectual disability, postnatal growth retardation and dysmorphic features. Here, we describe Danish sisters with two novel mutations in TELO2. In particular, we highlight the clinical features of the 22‐year index patient, which are more severe than the original patients described, thereby expanding the clinical spectrum of YHFS. Methods The index patient was clinically examined and subsequently exome sequencing on her DNA was performed using the NimbleGen SeqCap EZ Human Exome Library v2.0 enrichment kit on an Illumina HiSeq2000 sequencer. Results Two novel, compound heterozygous mutations in TELO2 were identified in the index patient and her deceased older sister. Both have clinical features in keeping with the original YHFS patients, although the index patient seems to represent the severe end of the clinical spectrum with very marked prenatal onset growth retardation and microcephaly, severe global developmental delay and facial dysmorphic features. Additional clinical findings include eye anomalies (bilateral congenital cataracts, retinitis pigmentosa, convergent squint), bilateral conductive hearing loss, an abnormal kidney and seizures. Conclusion This report of Danish siblings with YHFS serves to expand the presentation of this new syndrome to include features in keeping with a form of microcephalic primordial dwarfism on the severe end of the clinical spectrum, and adds two novel mutations to the TELO2 mutational spectrum."],["dc.identifier.doi","10.1002/mgg3.287"],["dc.identifier.gro","3142502"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/13656"],["dc.language.iso","en"],["dc.notes.intern","lifescience updates Crossref Import"],["dc.notes.status","final"],["dc.relation.issn","2324-9269"],["dc.title","Novel compound heterozygous mutations in TELO2 in a patient with severe expression of You-Hoover-Fong syndrome"],["dc.type","journal_article"],["dc.type.internalPublication","unknown"],["dc.type.peerReviewed","no"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","837"],["dc.bibliographiccitation.issue","12"],["dc.bibliographiccitation.journal","Journal of Medical Genetics"],["dc.bibliographiccitation.lastpage","846"],["dc.bibliographiccitation.volume","55"],["dc.contributor.author","Paolacci, Stefano"],["dc.contributor.author","Li, Yun"],["dc.contributor.author","Agolini, Emanuele"],["dc.contributor.author","Bellacchio, Emanuele"],["dc.contributor.author","Arboleda-Bustos, Carlos E"],["dc.contributor.author","Carrero, Dido"],["dc.contributor.author","Bertola, Debora"],["dc.contributor.author","Al-Gazali, Lihadh"],["dc.contributor.author","Alders, Mariel"],["dc.contributor.author","Altmüller, Janine"],["dc.contributor.author","Arboleda, Gonzalo"],["dc.contributor.author","Beleggia, Filippo"],["dc.contributor.author","Bruselles, Alessandro"],["dc.contributor.author","Ciolfi, Andrea"],["dc.contributor.author","Gillessen-Kaesbach, Gabriele"],["dc.contributor.author","Krieg, Thomas"],["dc.contributor.author","Mohammed, Shehla"],["dc.contributor.author","Müller, Christian"],["dc.contributor.author","Novelli, Antonio"],["dc.contributor.author","Ortega, Jenny"],["dc.contributor.author","Sandoval, Adrian"],["dc.contributor.author","Velasco, Gloria"],["dc.contributor.author","Yigit, Gökhan"],["dc.contributor.author","Arboleda, Humberto"],["dc.contributor.author","Lopez-Otin, Carlos"],["dc.contributor.author","Wollnik, Bernd"],["dc.contributor.author","Tartaglia, Marco"],["dc.contributor.author","Hennekam, Raoul C"],["dc.date.accessioned","2020-12-10T18:37:16Z"],["dc.date.available","2020-12-10T18:37:16Z"],["dc.date.issued","2018"],["dc.identifier.doi","10.1136/jmedgenet-2018-105528"],["dc.identifier.pmid","30323018"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/76895"],["dc.identifier.url","https://sfb1002.med.uni-goettingen.de/production/literature/publications/238"],["dc.language.iso","en"],["dc.notes.intern","DOI Import GROB-354"],["dc.relation","SFB 1002: Modulatorische Einheiten bei Herzinsuffizienz"],["dc.relation","SFB 1002 | D02: Neue Mechanismen der genomischen Instabilität bei Herzinsuffizienz"],["dc.relation.workinggroup","RG Wollnik"],["dc.title","Specific combinations of biallelic POLR3A variants cause Wiedemann-Rautenstrauch syndrome"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.subtype","original_ja"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.issue","9"],["dc.bibliographiccitation.journal","American Journal of Medical Genetics Part A"],["dc.bibliographiccitation.volume","170"],["dc.contributor.author","Moosa, Shahida"],["dc.contributor.author","Fano, Virginia"],["dc.contributor.author","Obregon, Maria Gabriela"],["dc.contributor.author","Altmüller, Janine"],["dc.contributor.author","Thiele, Holger"],["dc.contributor.author","Nürnberg, Peter"],["dc.contributor.author","Nishimura, Gen"],["dc.contributor.author","Wollnik, Bernd"],["dc.date.accessioned","2017-09-07T11:54:27Z"],["dc.date.available","2017-09-07T11:54:27Z"],["dc.date.issued","2016"],["dc.identifier.doi","10.1002/ajmg.a.37884"],["dc.identifier.gro","3145170"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/2876"],["dc.notes.intern","Crossref Import"],["dc.notes.status","public"],["dc.publisher","Wiley-Blackwell"],["dc.relation.issn","1552-4825"],["dc.title","Cover Image, Volume 170A, Number 9, September 2016"],["dc.type","journal_article"],["dc.type.internalPublication","unknown"],["dc.type.peerReviewed","no"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","1216"],["dc.bibliographiccitation.issue","4"],["dc.bibliographiccitation.journal","American Journal of Medical Genetics Part A"],["dc.bibliographiccitation.lastpage","1221"],["dc.bibliographiccitation.volume","185"],["dc.contributor.author","Gangfuß, Andrea"],["dc.contributor.author","Yigit, Gökhan"],["dc.contributor.author","Altmüller, Janine"],["dc.contributor.author","Nürnberg, Peter"],["dc.contributor.author","Czeschik, Johanna Christina"],["dc.contributor.author","Wollnik, Bernd"],["dc.contributor.author","Bögershausen, Nina"],["dc.contributor.author","Burfeind, Peter"],["dc.contributor.author","Wieczorek, Dagmar"],["dc.contributor.author","Kaiser, Frank"],["dc.contributor.author","Roos, Andreas"],["dc.contributor.author","Kölbel, Heike"],["dc.contributor.author","Schara‐Schmidt, Ulrike"],["dc.contributor.author","Kuechler, Alma"],["dc.date.accessioned","2021-04-14T08:30:46Z"],["dc.date.available","2021-04-14T08:30:46Z"],["dc.date.issued","2021"],["dc.identifier.doi","10.1002/ajmg.a.62070"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/83369"],["dc.language.iso","en"],["dc.notes.intern","DOI Import GROB-399"],["dc.relation.eissn","1552-4833"],["dc.relation.issn","1552-4825"],["dc.title","Intellectual disability associated with craniofacial dysmorphism, cleft palate, and congenital heart defect due to a de novo MEIS2 mutation: A clinical longitudinal study"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","36"],["dc.bibliographiccitation.issue","1"],["dc.bibliographiccitation.journal","Nature Genetics"],["dc.bibliographiccitation.lastpage","+"],["dc.bibliographiccitation.volume","48"],["dc.contributor.author","Harley, Margaret E."],["dc.contributor.author","Murina, Olga"],["dc.contributor.author","Leitch, Andrea"],["dc.contributor.author","Higgs, Martin R."],["dc.contributor.author","Bicknell, Louise S."],["dc.contributor.author","Yigit, Gökhan"],["dc.contributor.author","Blackford, Andrew N."],["dc.contributor.author","Zlatanou, Anastasia"],["dc.contributor.author","Mackenzie, Karen J."],["dc.contributor.author","Reddy, Kaalak"],["dc.contributor.author","Halachev, Mihail"],["dc.contributor.author","McGlasson, Sarah"],["dc.contributor.author","Reijns, Martin A. M."],["dc.contributor.author","Fluteau, Adeline"],["dc.contributor.author","Martin, Carol-Anne"],["dc.contributor.author","Sabbioneda, Simone"],["dc.contributor.author","Elcioglu, Nursel H."],["dc.contributor.author","Altmüller, Janine"],["dc.contributor.author","Thiele, Holger"],["dc.contributor.author","Greenhalgh, Lynn"],["dc.contributor.author","Chessa, Luciana"],["dc.contributor.author","Maghnie, Mohamad"],["dc.contributor.author","Salim, Mahmoud"],["dc.contributor.author","Bober, Michael B."],["dc.contributor.author","Nürnberg, Peter"],["dc.contributor.author","Jackson, Stephen P."],["dc.contributor.author","Hurles, Matthew E."],["dc.contributor.author","Wollnik, Bernd"],["dc.contributor.author","Stewart, Grant S."],["dc.contributor.author","Jackson, Andrew P."],["dc.date.accessioned","2017-09-07T11:54:46Z"],["dc.date.available","2017-09-07T11:54:46Z"],["dc.date.issued","2016"],["dc.description.abstract","DNA lesions encountered by replicative polymerases threaten genome stability and cell cycle progression. Here we report the identification of mutations in TRAIP, encoding an E3 RING ubiquitin ligase, in patients with microcephalic primordial dwarfism. We establish that TRAIP relocalizes to sites of DNA damage, where it is required for optimal phosphorylation of H2AX and RPA2 during S-phase in response to ultraviolet (UV) irradiation, as well as fork progression through UV-induced DNA lesions. TRAIP is necessary for efficient cell cycle progression and mutations in TRAIP therefore limit cellular proliferation, providing a potential mechanism for microcephaly and dwarfism phenotypes. Human genetics thus identifies TRAIP as a component of the DNA damage response to replication-blocking DNA lesions."],["dc.identifier.doi","10.1038/ng.3451"],["dc.identifier.gro","3141758"],["dc.identifier.isi","000367255300011"],["dc.identifier.pmid","26595769"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/746"],["dc.notes.intern","WoS Import 2017-03-10"],["dc.notes.status","final"],["dc.notes.submitter","PUB_WoS_Import"],["dc.publisher","Nature Publishing Group"],["dc.relation.eissn","1546-1718"],["dc.relation.issn","1061-4036"],["dc.title","TRAIP promotes DNA damage response during genome replication and is mutated in primordial dwarfism"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.subtype","original"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","2436"],["dc.bibliographiccitation.issue","9"],["dc.bibliographiccitation.journal","American Journal of Medical Genetics"],["dc.bibliographiccitation.lastpage","2439"],["dc.bibliographiccitation.volume","170"],["dc.contributor.author","Moosa, Shahida"],["dc.contributor.author","Fano, Virginia"],["dc.contributor.author","Obregon, Maria Gabriela"],["dc.contributor.author","Altmüller, Janine"],["dc.contributor.author","Thiele, Holger"],["dc.contributor.author","Nürnberg, Peter"],["dc.contributor.author","Nishimura, Gen"],["dc.contributor.author","Wollnik, Bernd"],["dc.date.accessioned","2017-09-07T11:44:40Z"],["dc.date.available","2017-09-07T11:44:40Z"],["dc.date.issued","2016"],["dc.identifier.doi","10.1002/ajmg.a.37823"],["dc.identifier.gro","3141623"],["dc.identifier.isi","000383608700031"],["dc.identifier.pmid","27354339"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/2344"],["dc.notes.intern","WoS Import 2017-03-10"],["dc.notes.status","final"],["dc.notes.submitter","PUB_WoS_Import"],["dc.publisher","Wiley-blackwell"],["dc.relation.eissn","1552-4833"],["dc.relation.issn","1552-4825"],["dc.title","A Novel Homozygous PAM16 Mutation in a Patient with a Milder Phenotype and Longer Survival"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.subtype","letter_note"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","3282"],["dc.bibliographiccitation.issue","12"],["dc.bibliographiccitation.journal","American Journal of Medical Genetics"],["dc.bibliographiccitation.lastpage","3288"],["dc.bibliographiccitation.volume","170"],["dc.contributor.author","Bögershausen, Nina"],["dc.contributor.author","Altunoglu, Umut"],["dc.contributor.author","Beleggia, Filippo"],["dc.contributor.author","Yigit, Gökhan"],["dc.contributor.author","Kayserili, Hülya"],["dc.contributor.author","Nürnberg, Peter"],["dc.contributor.author","Li, Yun"],["dc.contributor.author","Altmüller, Janine"],["dc.contributor.author","Wollnik, Bernd"],["dc.date.accessioned","2017-09-07T11:44:31Z"],["dc.date.available","2017-09-07T11:44:31Z"],["dc.date.issued","2016"],["dc.description.abstract","Kabuki syndrome (KS) is a rare developmental disorder characterized by multiple congenital malformations, postnatal growth retardation, intellectual disability, and recognizable facial features. It is mainly caused by mutations in either KMT2D or KDM6A. We describe a 14-year-old boy with KS presenting with an unusual combination of bilateral microphthalmia with orbital cystic venous lymphatic malformation and neonatal cholestasis with bile duct paucity, in addition to the typical clinical features of KS. We identified the novel KMT2D mutation c.10588delC, p.(Glu3530Serfs 128) by Mendeliome (Illumina TruSight One (R)) sequencing, a next generation sequencing panel targeting 4,813 genes linked to human genetic disease. We analyzed the Mendeliome data for additional mutations which might explain the exceptional clinical presentation of our patient but did not find any, leading us to suspect that the above named symptoms might be part of the KMT2D-associated spectrum of anomalies. We thus extend the range of KS-associated malformations and propose a hypothetical connection between KMT2D and Notch signaling. (C) 2016 Wiley Periodicals, Inc."],["dc.identifier.doi","10.1002/ajmg.a.37931"],["dc.identifier.gro","3141596"],["dc.identifier.isi","000388199100035"],["dc.identifier.pmid","27530281"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/7"],["dc.notes.intern","WoS Import 2017-03-10 / Funder: German Federal Ministry of Education and Research (BMBF) [01GM0801]"],["dc.notes.status","final"],["dc.notes.submitter","PUB_WoS_Import"],["dc.relation.eissn","1552-4833"],["dc.relation.issn","1552-4825"],["dc.title","An Unusual Presentation of Kabuki Syndrome with Orbital Cysts, Microphthalmia, and Cholestasis with Bile Duct Paucity"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dspace.entity.type","Publication"]]