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

Nature Genetics

Volumn 44, Issue 6, 2012, Pages 639-641

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

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^c RADBOUD UNIVERSITY   (Netherlands)

^d ST GEORGE'S UNIVERSITY OF LONDON   (United Kingdom)

^e CHU BRETONNEAU   (France)

^f HÔPITAL NECKER ENFANTS MALADES   (France)

^g IMAGINE INSTITUTE   (France)

^h CHILDREN S HOSPITAL COLORADO   (United States)

ⁱ BAYLOR COLLEGE OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

HISTONE H4; LYSINE; MESSENGER RNA; PROREIN KAT8; PROTEIN; PROTEIN KANSL1; UNCLASSIFIED DRUG;

ACETYLATION; ANIMAL TISSUE; ARTICLE; CELL LINEAGE; CHILD; CHROMATIN; CHROMOSOME 17Q21.31 MICRODELETION SYNDROME; CHROMOSOME DELETION; CLINICAL FEATURE; DROSOPHILA MELANOGASTER; EXON; FACE; GENE; GENE EXPRESSION; GENE MUTATION; HAPLOINSUFFICIENCY; HUMAN; HUMAN CELL; INTELLIGENCE; INTRON; KANSL1 GENE; LEARNING DISORDER; MUSCLE HYPOTONIA; MUTANT; NONHUMAN; NONSENSE MUTATION; PRIORITY JOURNAL; RNA SEQUENCE; SYSTEMIC DISEASE;

ABNORMALITIES, MULTIPLE; AGED; AGING; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 17; FACIES; FEMALE; HAPLOINSUFFICIENCY; HUMANS; INTELLECTUAL DISABILITY; MALE; MIDDLE AGED; MUTATION; NUCLEAR PROTEINS; SYNDROME;

DROSOPHILA MELANOGASTER;

EID: 84861587577     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng.2262     Document Type: Article

References (14)

1. Koolen, D.A. et al. Nat. Genet. 38, 999-1001 (2006).
2. Sharp, A.J. et al. Nat. Genet. 38, 1038-1042 (2006).
3. Shaw-Smith, C. et al. Nat. Genet. 38, 1032-1037 (2006).
4. Koolen, D.A. et al. J. Med. Genet. 45, 710-720 (2008).
5. Tan, T.Y. et al. J. Med. Genet. 46, 480-489 (2009).
6. Hutton, M. et al. Nature 393, 702-705 (1998).
7. Dubourg, C. et al. Eur. J. Med. Genet. 54, 144-151 (2011).
8. Cooper, G.M. et al. Nat. Genet. 43, 838-846 (2011).
9. Mendjan, S. et al. Mol. Cell 21, 811-823 (2006).
10. Li, X. et al. Mol. Cell 36, 290-301 (2009).
11. Dou, Y. et al. Cell 121, 873-885 (2005).
12. Ng, S.B. et al. Nat. Genet. 42, 790-793 (2010).
13. Raja, S.J. et al. Mol. Cell 38, 827-841 (2010).
14. Lone, M. et al. J. Cell Sci. 123, 2369-2374 (2010).