Literature DB >> 22544367

Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype.

Marcella Zollino1, Daniela Orteschi, Marina Murdolo, Serena Lattante, Domenica Battaglia, Chiara Stefanini, Eugenio Mercuri, Pietro Chiurazzi, Giovanni Neri, Giuseppe Marangi.   

Abstract

The chromosome 17q21.31 deletion syndrome is a genomic disorder characterized by highly distinctive facial features, moderate-to-severe intellectual disability, hypotonia and friendly behavior. Here, we show that de novo loss-of-function mutations in KANSL1 (also called KIAA1267) cause a full del(17q21.31) phenotype in two unrelated individuals that lack deletion at 17q21.31. These findings indicate that 17q21.31 deletion syndrome is a monogenic disorder caused by haploinsufficiency of KANSL1.

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Year:  2012        PMID： 22544367     DOI： 10.1038/ng.2257

Source DB:  PubMed          Journal:  Nat Genet        ISSN： 1061-4036            Impact factor:   38.330


  15 in total

1.  Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome.

Authors:  Andrew J Sharp; Sierra Hansen; Rebecca R Selzer; Ze Cheng; Regina Regan; Jane A Hurst; Helen Stewart; Sue M Price; Edward Blair; Raoul C Hennekam; Carrie A Fitzpatrick; Rick Segraves; Todd A Richmond; Cheryl Guiver; Donna G Albertson; Daniel Pinkel; Peggy S Eis; Stuart Schwartz; Samantha J L Knight; Evan E Eichler
Journal:  Nat Genet       Date:  2006-08-13       Impact factor: 38.330

2.  Clinical and molecular characterization of 17q21.31 microdeletion syndrome in 14 French patients with mental retardation.

Authors:  Christèle Dubourg; Damien Sanlaville; Martine Doco-Fenzy; Cédric Le Caignec; Chantal Missirian; Sylvie Jaillard; Caroline Schluth-Bolard; Emilie Landais; Odile Boute; Nicole Philip; Annick Toutain; Albert David; Patrick Edery; Anne Moncla; Dominique Martin-Coignard; Catherine Vincent-Delorme; Isabelle Mortemousque; Bénédicte Duban-Bedu; Sèverine Drunat; Mylène Beri; Jean Mosser; Sylvie Odent; Véronique David; Joris Andrieux
Journal:  Eur J Med Genet       Date:  2010-11-20       Impact factor: 2.708

3.  Phenotypic expansion and further characterisation of the 17q21.31 microdeletion syndrome.

Authors:  T Y Tan; S Aftimos; L Worgan; R Susman; M Wilson; S Ghedia; E P Kirk; D Love; A Ronan; A Darmanian; A Slavotinek; J Hogue; J B Moeschler; J Ozmore; R Widmer; Damien Bruno; R Savarirayan; G Peters
Journal:  J Med Genet       Date:  2009-05-15       Impact factor: 6.318

4.  A human protein complex homologous to the Drosophila MSL complex is responsible for the majority of histone H4 acetylation at lysine 16.

Authors:  Edwin R Smith; Christelle Cayrou; Rong Huang; William S Lane; Jacques Côté; John C Lucchesi
Journal:  Mol Cell Biol       Date:  2005-11       Impact factor: 4.272

5.  Subunit composition and substrate specificity of a MOF-containing histone acetyltransferase distinct from the male-specific lethal (MSL) complex.

Authors:  Yong Cai; Jingji Jin; Selene K Swanson; Michael D Cole; Seung Hyuk Choi; Laurence Florens; Michael P Washburn; Joan W Conaway; Ronald C Conaway
Journal:  J Biol Chem       Date:  2009-12-14       Impact factor: 5.157

6.  Two mammalian MOF complexes regulate transcription activation by distinct mechanisms.

Authors:  Xiangzhi Li; Lipeng Wu; Callie Ann Sprunger Corsa; Steve Kunkel; Yali Dou
Journal:  Mol Cell       Date:  2009-10-23       Impact factor: 17.970

7.  Molecular characterisation of the 22q13 deletion syndrome supports the role of haploinsufficiency of SHANK3/PROSAP2 in the major neurological symptoms.

Authors:  H L Wilson; A C C Wong; S R Shaw; W-Y Tse; G A Stapleton; M C Phelan; S Hu; J Marshall; H E McDermid
Journal:  J Med Genet       Date:  2003-08       Impact factor: 6.318

8.  Mutations in RAI1 associated with Smith-Magenis syndrome.

Authors:  Rebecca E Slager; Tiffany Lynn Newton; Christopher N Vlangos; Brenda Finucane; Sarah H Elsea
Journal:  Nat Genet       Date:  2003-03-24       Impact factor: 38.330

9.  A copy number variation morbidity map of developmental delay.

Authors:  Gregory M Cooper; Bradley P Coe; Santhosh Girirajan; Jill A Rosenfeld; Tiffany H Vu; Carl Baker; Charles Williams; Heather Stalker; Rizwan Hamid; Vickie Hannig; Hoda Abdel-Hamid; Patricia Bader; Elizabeth McCracken; Dmitriy Niyazov; Kathleen Leppig; Heidi Thiese; Marybeth Hummel; Nora Alexander; Jerome Gorski; Jennifer Kussmann; Vandana Shashi; Krys Johnson; Catherine Rehder; Blake C Ballif; Lisa G Shaffer; Evan E Eichler
Journal:  Nat Genet       Date:  2011-08-14       Impact factor: 38.330

10.  Clinical and molecular delineation of the 17q21.31 microdeletion syndrome.

Authors:  D A Koolen; A J Sharp; J A Hurst; H V Firth; S J L Knight; A Goldenberg; P Saugier-Veber; R Pfundt; L E L M Vissers; A Destrée; B Grisart; L Rooms; N Van der Aa; M Field; A Hackett; K Bell; M J M Nowaczyk; G M S Mancini; P J Poddighe; C E Schwartz; E Rossi; M De Gregori; L L Antonacci-Fulton; M D McLellan; J M Garrett; M A Wiechert; T L Miner; S Crosby; R Ciccone; L Willatt; A Rauch; M Zenker; S Aradhya; M A Manning; T M Strom; J Wagenstaller; A C Krepischi-Santos; A M Vianna-Morgante; C Rosenberg; S M Price; H Stewart; C Shaw-Smith; H G Brunner; A O M Wilkie; J A Veltman; O Zuffardi; E E Eichler; B B A de Vries
Journal:  J Med Genet       Date:  2008-07-15       Impact factor: 6.318
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  59 in total

1.  Investigation of genetic factors underlying typical orofacial clefts: mutational screening and copy number variation.

Authors:  Milena Simioni; Tânia Kawasaki Araujo; Isabella Lopes Monlleo; Cláudia Vianna Maurer-Morelli; Vera Lúcia Gil-da-Silva-Lopes
Journal:  J Hum Genet       Date:  2014-11-13       Impact factor: 3.172

2.  The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant.

Authors:  David A Koolen; Rolph Pfundt; Katrin Linda; Gea Beunders; Hermine E Veenstra-Knol; Jessie H Conta; Ana Maria Fortuna; Gabriele Gillessen-Kaesbach; Sarah Dugan; Sara Halbach; Omar A Abdul-Rahman; Heather M Winesett; Wendy K Chung; Marguerite Dalton; Petia S Dimova; Teresa Mattina; Katrina Prescott; Hui Z Zhang; Howard M Saal; Jayne Y Hehir-Kwa; Marjolein H Willemsen; Charlotte W Ockeloen; Marjolijn C Jongmans; Nathalie Van der Aa; Pinella Failla; Concetta Barone; Emanuela Avola; Alice S Brooks; Sarina G Kant; Erica H Gerkes; Helen V Firth; Katrin Õunap; Lynne M Bird; Diane Masser-Frye; Jennifer R Friedman; Modupe A Sokunbi; Abhijit Dixit; Miranda Splitt; Mary K Kukolich; Julie McGaughran; Bradley P Coe; Jesús Flórez; Nael Nadif Kasri; Han G Brunner; Elizabeth M Thompson; Jozef Gecz; Corrado Romano; Evan E Eichler; Bert B A de Vries
Journal:  Eur J Hum Genet       Date:  2015-08-26       Impact factor: 4.246

3.  Complex phenotype associated with 17q21.31 microdeletion.

Authors:  H Dornelles-Wawruk; A Pic-Taylor; C Rosenberg; A C V Krepischi; H P N Safatle; I Ferrari; J F Mazzeu
Journal:  Mol Syndromol       Date:  2013-08-21

4.  Genomic convergence of locus-based GWAS meta-analysis identifies AXIN1 as a novel Parkinson's gene.

Authors:  Mohammad Saeed
Journal:  Immunogenetics       Date:  2018-06-19       Impact factor: 2.846

Review 5.  Chromosomal Microarrays: Understanding Genetics of Neurodevelopmental Disorders and Congenital Anomalies.

Authors:  Jill A Rosenfeld; Ankita Patel
Journal:  J Pediatr Genet       Date:  2016-05-30

6.  The landscape of somatic mutations in Down syndrome-related myeloid disorders.

Authors:  Kenichi Yoshida; Tsutomu Toki; Yusuke Okuno; Rika Kanezaki; Yuichi Shiraishi; Aiko Sato-Otsubo; Masashi Sanada; Myoung-ja Park; Kiminori Terui; Hiromichi Suzuki; Ayana Kon; Yasunobu Nagata; Yusuke Sato; RuNan Wang; Norio Shiba; Kenichi Chiba; Hiroko Tanaka; Asahito Hama; Hideki Muramatsu; Daisuke Hasegawa; Kazuhiro Nakamura; Hirokazu Kanegane; Keiko Tsukamoto; Souichi Adachi; Kiyoshi Kawakami; Koji Kato; Ryosei Nishimura; Shai Izraeli; Yasuhide Hayashi; Satoru Miyano; Seiji Kojima; Etsuro Ito; Seishi Ogawa
Journal:  Nat Genet       Date:  2013-09-22       Impact factor: 38.330

7.  Germline mutations affecting the histone H4 core cause a developmental syndrome by altering DNA damage response and cell cycle control.

Authors:  Federico Tessadori; Jacques C Giltay; Jane A Hurst; Maarten P Massink; Karen Duran; Harmjan R Vos; Robert M van Es; Richard H Scott; Koen L I van Gassen; Jeroen Bakkers; Gijs van Haaften
Journal:  Nat Genet       Date:  2017-09-18       Impact factor: 38.330

8.  Molecular Characterization of Koolen De Vries Syndrome in Two Girls with Idiopathic Intellectual Disability from Central Brazil.

Authors:  Gustavo R Nascimento; Irene P Pinto; Aldaires V de Melo; Damiana M da Cruz; Cristiano L Ribeiro; Claudio C da Silva; Aparecido D da Cruz; Lysa B Minasi
Journal:  Mol Syndromol       Date:  2017-02-24

9.  Novel primate miRNAs coevolved with ancient target genes in germinal zone-specific expression patterns.

Authors:  Mary L Arcila; Marion Betizeau; Xiaolu A Cambronne; Elmer Guzman; Nathalie Doerflinger; Frantz Bouhallier; Hongjun Zhou; Bian Wu; Neha Rani; Danielle S Bassett; Ugo Borello; Cyril Huissoud; Richard H Goodman; Colette Dehay; Kenneth S Kosik
Journal:  Neuron       Date:  2014-02-27       Impact factor: 17.173

Review 10.  Cognitive genomics: Searching for the genetic roots of neuropsychological functioning.

Authors:  Carrie E Bearden; David C Glahn
Journal:  Neuropsychology       Date:  2017-11       Impact factor: 3.295
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