A mutation screen in patients with Kabuki syndrome

Human Genetics

Volumn 130, Issue 6, 2011, Pages 715-724

  Li, Yun ^a   Bögershausen, Nina ^a   Alanay, Yasemin ^b   Simsek Kiper, Pelin Özlem ^b   Plume, Nadine ^a   Keupp, Katharina ^a   Pohl, Esther ^a   Pawlik, Barbara ^a   Rachwalski, Martin ^a   Milz, Esther ^a   Thoenes, Michaela ^a   Albrecht, Beate ^c   Prott, Eva Christina ^c   Lehmkühler, Margret ^c   Demuth, Stephanie ^d   Utine, Gülen Eda ^b   Boduroglu, Koray ^b   Frankenbusch, Katja ^a   Borck, Guntram ^a,e   Gillessen Kaesbach, Gabriele ^f   Yigit, Gökhan ^a   Wieczorek, Dagmar ^c   Wollnik, Bernd ^a   more..

^a UNIVERSITY OF COLOGNE   (Germany)

^b HACETTEPE UNIVERSITY   (Turkey)

^c UNIVERSITY HOSPITAL ESSEN   (Germany)

^d Praxis für Humangenetik Erfurt   (Germany)

^e UNIVERSITY OF ULM   (Germany)

^f UNIVERSITY OF LÜBECK   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; ASC2 GENE; ASH2L GENE; CLINICAL ARTICLE; COMPARATIVE GENE MAPPING; CONTROLLED STUDY; EXON; GENE; GENE DELETION; GENE FUNCTION; GENE IDENTIFICATION; GENE INSERTION; GENE SEQUENCE; GENETIC HETEROGENEITY; GENETIC SCREENING; HETEROZYGOTE; HUMAN; KABUKI MAKEUP SYNDROME; KIDNEY MALFORMATION; MISSENSE MUTATION; MLL GENE; MLL2 GENE; MUTATIONAL ANALYSIS; NONSENSE MUTATION; PRIORITY JOURNAL; SHORT STATURE; SPLICING DEFECT; WDR5 GENE;

ABNORMALITIES, MULTIPLE; DNA MUTATIONAL ANALYSIS; DNA-BINDING PROTEINS; EXONS; FACE; FEMALE; GENETIC HETEROGENEITY; HEMATOLOGIC DISEASES; HETEROZYGOTE; HUMANS; MALE; MUTATION; NEOPLASM PROTEINS; PHENOTYPE; SEQUENCE ANALYSIS, DNA; VESTIBULAR DISEASES;

EID: 82555194140     PISSN: 03406717     EISSN: 14321203     Source Type: Journal    
DOI: 10.1007/s00439-011-1004-y     Document Type: Article

References (22)

1. MP Adam L Hudgins 2005 Kabuki syndrome: a review Clin Genet 67 209 219 15691356 10.1111/j.1399-0004.2004.00348.x 1:STN:280:DC%2BD2M%2FmtlahtQ%3D%3D (Pubitemid 40277901)
2. L Armstrong A Abd El Moneim K Aleck DJ Aughton C Baumann SR Braddock G Gillessen-Kaesbach JM Graham Jr TA Grebe KW Gripp BD Hall R Hennekam A Hunter K Keppler-Noreuil D Lacombe AE Lin JE Ming NM Kokitsu-Nakata SM Nikkel N Philip A Raas-Rothschild A Sommer A Verloes C Walter D Wieczorek MS Williams E Zackai JE Allanson 2005 Further delineation of Kabuki syndrome in 48 well-defined new individuals Am J Med Genet A 132A 265 272 15690370 10.1002/ajmg.a.30340 (Pubitemid 40076228)
3. PY Chang RA Hom CA Musselman L Zhu A Kuo O Gozani TG Kutateladze ML Cleary 2010 Binding of the MLL PHD3 finger to histone H3K4me3 is required for MLL-dependent gene transcription J Mol Biol 400 137 144 20452361 10.1016/j.jmb.2010.05.005 1:CAS:528:DC%2BC3cXntlajurk%3D
4. S Choufani C Shuman R Weksberg 2010 Beckwith-Wiedemann syndrome Am J Med Genet C Semin Med Genet 154C 343 354 20803657 10.1002/ajmg.c.30267 1:CAS:528:DC%2BC3cXhtFKqsr7J
5. C Dodé JP Hardelin 2010 Clinical genetics of Kallmann syndrome Ann Endocrinol (Paris) 71 149 157 10.1016/j.ando.2010.02.005
6. T Eggermann M Begemann S Spengler C Schröder U Kordass G Binder 2010 Genetic and epigenetic findings in Silver-Russel syndrome Pediatr Endocrinol Rev 8 86 93 21150838
7. Z Fan T Yamaza JS Lee J Yu S Wang G Fan S Shi CY Wang 2009 BCOR regulates mesenchymal stem cell function by epigenetic mechanisms Nat Cell Biol 11 1002 1009 19578371 10.1038/ncb1913 1:CAS:528:DC%2BD1MXpsVaktLc%3D
8. J Francis C Antzelevitch 2005 Brugada syndrome Int J Cardiol 101 173 178 15882659 10.1016/j.ijcard.2004.03.068 (Pubitemid 40637608)
9. ER Gibney CM Nolan 2010 Epigenetics and gene expression Heredity 105 4 13 20461105 10.1038/hdy.2010.54 1:CAS:528:DC%2BC3cXnsVOrtLw%3D
10. C Gilissen HH Arts A Hoischen L Spruijt DA Mans P Arts B van Lier M Steehouwer J van Reeuwijk SG Kant R Roepman NV Knoers JA Veltman HG Brunner 2010 Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome Am J Hum Genet 87 418 423 20817137 10.1016/j.ajhg.2010.08.004 1:CAS:528:DC%2BC3cXhtFamsbfI
11. HH Ho LC Eaves 1997 Kabuki make-up (Niikawa-Kuroki) syndrome: cognitive abilities and autistic features Dev Med Child Neurol 39 487 490 9285441 10.1111/j.1469-8749.1997.tb07470.x 1:STN:280:DyaK2svivFyjsQ%3D%3D (Pubitemid 27338560)
12. A Hoischen BW van Bon C Gilissen P Arts B van Lier M Steehouwer P de Vries R de Reuver N Wieskamp G Mortier K Devriendt MZ Amorim N Revencu A Kidd M Barbosa A Turner J Smith C Oley A Henderson IM Hayes EM Thompson HG Brunner BB de Vries JA Veltman 2010 De novo mutations of SETBP1 cause Schinzel-Giedion syndrome Nat Genet 42 483 485 20436468 10.1038/ng.581 1:CAS:528: DC%2BC3cXlsVyiu7o%3D
13. I Issaeva Y Zonis T Rozovskaia K Orlovsky CM Croce T Nakamura A Mazo L Eisenbach E Canaani 2007 Knockdown of ALR (MLL2) reveals ALR target genes and leads to alterations in cell adhesion and growth Mol Cell Biol 27 1889 1903 17178841 10.1128/MCB.01506-06 1:CAS:528:DC%2BD2sXit1WgurY%3D
14. E Kalay G Yigit Y Aslan KE Brown E Pohl LS Bicknell H Kayserili Y Li B Tüysüz G Nürnberg W Kiess M Koegl I Baessmann K Buruk B Toraman S Kayipmaz S Kul M Ikbal DJ Turner MS Taylor J Aerts C Scott K Milstein H Dollfus D Wieczorek HG Brunner M Hurles AP Jackson A Rauch P Nürnberg A Karagüzel B Wollnik 2011 CEP152 is a genome maintenance protein disrupted in Seckel syndrome Nat Genet 43 23 26 21131973 10.1038/ng.725 1:CAS:528:DC%2BC3cXhsFajur7J
15. Y Kuroki Y Suzuki H Chyo A Hata I Matsui 1981 A new malformation syndrome of long palpebral fissures, large ears, depressed nasal tip, and skeletal anomalies associated with postnatal dwarfism and mental retardation J Pediatr 99 570 573 7277097 10.1016/S0022-3476(81)80256-9 1:STN:280:DyaL38%2FhtVSisA%3D%3D (Pubitemid 12232090)
16. N Matsumoto N Niikawa 2003 Kabuki make-up syndrome: a review Am J Med Genet 11 57 65 10.1002/ajmg.c.10020 (Pubitemid 37063632)
17. SB Ng KJ Buckingham C Lee AW Bigham HK Tabor KM Dent CD Huff PT Shannon EW Jabs DA Nickerson J Shendure MJ Bamshad 2010 Exome sequencing identifies the cause of a mendelian disorder Nat Genet 42 30 35 19915526 10.1038/ng.499 1:CAS:528:DC%2BD1MXhsVWlsbzE
18. SB Ng AW Bigham KJ Buckingham MC Hannibal MJ McMillin HI Gildersleeve AE Beck HK Tabor GM Cooper HC Mefford C Lee EH Turner JD Smith MJ Rieder K Yoshiura N Matsumoto T Ohta N Niikawa DA Nickerson MJ Bamshad J Shendure 2010 Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome Nat Genet 42 790 793 20711175 10.1038/ng.646 1:CAS:528:DC%2BC3cXhtVaisL7K
19. N Niikawa N Matsuura Y Fukushima T Ohsawa T Kajiim 1981 Kabuki make-up syndrome: a syndrome of mental retardation, unusual facies, large and protruding ears, and postnatal growth deficiency J Pediatr 99 565 569 7277096 10.1016/S0022-3476(81)80255-7 1:STN:280:DyaL38%2FhtVSisw%3D%3D (Pubitemid 12232089)
20. N Niikawa Y Kuroki T Kajii, et al. 1988 Kabuki makeup (Niikawa-Kuroki) syndrome: a study of 62 patients Am J Med Genet 31 565 589 3067577 10.1002/ajmg.1320310312 1:STN:280:DyaL1M7kvVensw%3D%3D (Pubitemid 18264330)
21. AD Paulussen AP Stegmann MJ Blok D Tserpelis C Posma-Velter Y Detisch EE Smeets A Wagemans JJ Schrander MJ van den Boogaard J van der Smagt A van Haeringen I Stolte-Dijkstra WS Kerstjens-Frederikse GM Mancini MW Wessels RC Hennekam M Vreeburg J Geraedts T de Ravel JP Fryns HJ Smeets K Devriendt CT Schrander-Stumpel 2011 MLL2 mutation spectrum in 45 patients with Kabuki syndrome Hum Mutat 32 E2018 E2025 21280141 10.1002/humu.21416 1:CAS:528:DC%2BC3MXktVGntr8%3D
22. GE Utine Y Alanay D Aktaş K Boduroǧlu M Alikaşifoǧlu E Tunçbilek 2008 Kabuki syndrome and trisomy 10p Genet Couns 19 291 300 18990985 1:STN:280:DC%2BD1cjis1KmsQ%3D%3D