Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome
10.1038/ng.646
Crossref journal-article
Springer Science and Business Media LLC
Nature Genetics (297)
Bibliography

Ng, S. B., Bigham, A. W., Buckingham, K. J., Hannibal, M. C., McMillin, M. J., Gildersleeve, H. I., Beck, A. E., Tabor, H. K., Cooper, G. M., Mefford, H. C., Lee, C., Turner, E. H., Smith, J. D., Rieder, M. J., Yoshiura, K., Matsumoto, N., Ohta, T., Niikawa, N., Nickerson, D. A., … Shendure, J. (2010). Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome. Nature Genetics, 42(9), 790–793.

Authors 21
  1. Sarah B Ng (first)
  2. Abigail W Bigham (additional)
  3. Kati J Buckingham (additional)
  4. Mark C Hannibal (additional)
  5. Margaret J McMillin (additional)
  6. Heidi I Gildersleeve (additional)
  7. Anita E Beck (additional)
  8. Holly K Tabor (additional)
  9. Gregory M Cooper (additional)
  10. Heather C Mefford (additional)
  11. Choli Lee (additional)
  12. Emily H Turner (additional)
  13. Joshua D Smith (additional)
  14. Mark J Rieder (additional)
  15. Koh-ichiro Yoshiura (additional)
  16. Naomichi Matsumoto (additional)
  17. Tohru Ohta (additional)
  18. Norio Niikawa (additional)
  19. Deborah A Nickerson (additional)
  20. Michael J Bamshad (additional)
  21. Jay Shendure (additional)
References 14 Referenced 1,085
  1. Choi, M. et al. Genetic diagnosis by whole exome capture and massively parallel DNA sequencing. Proc. Natl. Acad. Sci. USA 106, 19096–19101 (2009). (10.1073/pnas.0910672106) / Proc. Natl. Acad. Sci. USA by M Choi (2009)
  2. Ng, S.B. et al. Exome sequencing identifies the cause of a Mendelian disorder. Nat. Genet. 42, 30–35 (2010). (10.1038/ng.499) / Nat. Genet. by SB Ng (2010)
  3. Ng, S.B. et al. Targeted capture and massively parallel sequencing of 12 human exomes. Nature 461, 272–276 (2009). (10.1038/nature08250) / Nature by SB Ng (2009)
  4. FitzGerald, K.T. & Diaz, M.O. MLL2: A new mammalian member of the trx/MLL family of genes. Genomics 59, 187–192 (1999). (10.1006/geno.1999.5860) / Genomics by KT FitzGerald (1999)
  5. Niikawa, N., Matsuura, N., Fukushima, Y., Ohsawa, T. & Kajii, T. Kabuki make-up syndrome: a syndrome of mental retardation, unusual facies, large and protruding ears, and postnatal growth deficiency. J. Pediatr. 99, 565–569 (1981). (10.1016/S0022-3476(81)80255-7) / J. Pediatr. by N Niikawa (1981)
  6. Kuroki, Y., Suzuki, Y., Chyo, H., Hata, A. & Matsui, I. 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 (1981). (10.1016/S0022-3476(81)80256-9) / J. Pediatr. by Y Kuroki (1981)
  7. Niikawa, N. et al. Kabuki make-up (Niikawa-Kuroki) syndrome: a study of 62 patients. Am. J. Med. Genet. 31, 565–589 (1988). (10.1002/ajmg.1320310312) / Am. J. Med. Genet. by N Niikawa (1988)
  8. Courtens, W., Rassart, A., Stene, J.J. & Vamos, E. Further evidence for autosomal dominant inheritance and ectodermal abnormalities in Kabuki syndrome. Am. J. Med. Genet. 93, 244–249 (2000). (10.1002/1096-8628(20000731)93:3<244::AID-AJMG17>3.0.CO;2-2) / Am. J. Med. Genet. by W Courtens (2000)
  9. Cooper, G.M. et al. Distribution and intensity of constraint in mammalian genomic sequence. Genome Res. 15, 901–913 (2005). (10.1101/gr.3577405) / Genome Res. by GM Cooper (2005)
  10. Cooper, G.M. et al. Single-nucleotide evolutionary constraint scores highlight disease-causing mutations. Nat. Methods 7, 250–251 (2010). (10.1038/nmeth0410-250) / Nat. Methods by GM Cooper (2010)
  11. Prasad, R. et al. Structure and expression pattern of human ALR, a novel gene with strong homology to ALL-1 involved in acute leukemia and to Drosophila trithorax. Oncogene 15, 549–560 (1997). (10.1038/sj.onc.1201211) / Oncogene by R Prasad (1997)
  12. Issaeva, I. et al. Knockdown of ALR (MLL2) reveals ALR target genes and leads to alterations in cell adhesion and growth. Mol. Cell. Biol. 27, 1889–1903 (2007). (10.1128/MCB.01506-06) / Mol. Cell. Biol. by I Issaeva (2007)
  13. Glaser, S. et al. Multiple epigenetic maintenance factors implicated by the loss of Mll2 in mouse development. Development 133, 1423–1432 (2006). (10.1242/dev.02302) / Development by S Glaser (2006)
  14. Tonoki, H., Saitoh, S. & Kobayashi, K. Patient with del(12)(q12q13.12) manifesting abnormalities compatible with Noonan syndrome. Am. J. Med. Genet. 75, 416–418 (1998). (10.1002/(SICI)1096-8628(19980203)75:4<416::AID-AJMG13>3.0.CO;2-R) / Am. J. Med. Genet. by H Tonoki (1998)
Dates
Type When
Created 15 years ago (Aug. 15, 2010, 1:12 p.m.)
Deposited 2 years, 3 months ago (May 18, 2023, 4:10 p.m.)
Indexed 4 days ago (Aug. 23, 2025, 1:06 a.m.)
Issued 15 years ago (Aug. 15, 2010)
Published 15 years ago (Aug. 15, 2010)
Published Online 15 years ago (Aug. 15, 2010)
Published Print 14 years, 11 months ago (Sept. 1, 2010)
Funders 0

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@article{Ng_2010, title={Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome}, volume={42}, ISSN={1546-1718}, url={http://dx.doi.org/10.1038/ng.646}, DOI={10.1038/ng.646}, number={9}, journal={Nature Genetics}, publisher={Springer Science and Business Media LLC}, author={Ng, Sarah B and Bigham, Abigail W and Buckingham, Kati J and Hannibal, Mark C and McMillin, Margaret J and Gildersleeve, Heidi I and Beck, Anita E and Tabor, Holly K and Cooper, Gregory M and Mefford, Heather C and Lee, Choli and Turner, Emily H and Smith, Joshua D and Rieder, Mark J and Yoshiura, Koh-ichiro and Matsumoto, Naomichi and Ohta, Tohru and Niikawa, Norio and Nickerson, Deborah A and Bamshad, Michael J and Shendure, Jay}, year={2010}, month=aug, pages={790–793} }