Literature DB >> 22544363

Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome.

David A Koolen1, Jamie M Kramer, Kornelia Neveling, Willy M Nillesen, Heather L Moore-Barton, Frances V Elmslie, Annick Toutain, Jeanne Amiel, Valérie Malan, Anne Chun-Hui Tsai, Sau Wai Cheung, Christian Gilissen, Eugene T P Verwiel, Sarah Martens, Ton Feuth, Ernie M H F Bongers, Petra de Vries, Hans Scheffer, Lisenka E L M Vissers, Arjan P M de Brouwer, Han G Brunner, Joris A Veltman, Annette Schenck, Helger G Yntema, Bert B A de Vries.   

Abstract

We show that haploinsufficiency of KANSL1 is sufficient to cause the 17q21.31 microdeletion syndrome, a multisystem disorder characterized by intellectual disability, hypotonia and distinctive facial features. The KANSL1 protein is an evolutionarily conserved regulator of the chromatin modifier KAT8, which influences gene expression through histone H4 lysine 16 (H4K16) acetylation. RNA sequencing studies in cell lines derived from affected individuals and the presence of learning deficits in Drosophila melanogaster mutants suggest a role for KANSL1 in neuronal processes.

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Year:  2012        PMID： 22544363     DOI： 10.1038/ng.2262

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


  14 in total

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Journal:  Nat Genet       Date:  2006-08-13       Impact factor: 38.330

3.  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

4.  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
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Journal:  Mol Cell       Date:  2006-03-17       Impact factor: 17.970

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

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Journal:  Mol Cell       Date:  2009-10-23       Impact factor: 17.970

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

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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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  75 in total

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Review 2.  Genetic studies in intellectual disability and related disorders.

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3.  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
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4.  Ohnologs are overrepresented in pathogenic copy number mutations.

Authors:  Aoife McLysaght; Takashi Makino; Hannah M Grayton; Maria Tropeano; Kevin J Mitchell; Evangelos Vassos; David A Collier
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5.  Complex phenotype associated with 17q21.31 microdeletion.

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7.  The facial dysmorphology analysis technology in intellectual disability syndromes related to defects in the histones modifiers.

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Review 8.  Chromosomal Microarrays: Understanding Genetics of Neurodevelopmental Disorders and Congenital Anomalies.

Authors:  Jill A Rosenfeld; Ankita Patel
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Review 9.  Phenotypic impact of genomic structural variation: insights from and for human disease.

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10.  Genomewide association study for C-reactive protein in Indians replicates known associations of common variants.

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