Delineation of clinical features in Wiedemann-Steiner syndrome caused by KMT2A mutations

Clinical Genetics

Volumn 89, Issue 1, 2016, Pages 115-119

  Miyake, N ^a   Tsurusaki, Y ^a   Koshimizu, E ^a   Okamoto, N ^b   Kosho, T ^c   Brown, N J ^d,e   Tan, T Y ^e,f   Yap, P J J ^e   Suzumura, H ^g   Tanaka, T ^h   Nagai, T ^g   Nakashima, M ^a   Saitsu, H ^a   Niikawa, N ⁱ   Matsumoto, N ^a  

^a YOKOHAMA CITY UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^b RESEARCH INSTITUTE FOR MATERNAL AND CHILD HEALTH   (Japan)

^c SHINSHU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^d AUSTIN HEALTH   (Australia)

^e MURDOCH CHILDREN'S RESEARCH INSTITUTE   (Australia)

^f UNIVERSITY OF MELBOURNE   (Australia)

^g DOKKYO MEDICAL UNIVERSITY   (Japan)

^h HOKKAIDO MEDICAL CENTER   (Japan)

ⁱ HEALTH SCIENCES UNIVERSITY OF HOKKAIDO   (Japan)

Author keywords

Clinical comparison; Kabuki syndrome; KDM6A; KMT2A; KMT2D; Wiedemann Steiner syndrome

Indexed keywords

GENOMIC DNA; HISTONE LYSINE METHYLTRANSFERASE; MIXED LINEAGE LEUKEMIA PROTEIN; MLL PROTEIN, HUMAN;

ARTICLE; AUTOSOMAL DOMINANT DISORDER; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; FACE DYSMORPHIA; FEMALE; GENE SEQUENCE; GROWTH RETARDATION; HISTONE METHYLATION; HUMAN; KABUKI MAKEUP SYNDROME; KMT2A GENE; MALE; MARKER GENE; PHENOTYPE; PRIORITY JOURNAL; PSYCHOMOTOR DISORDER; SEQUENCE ANALYSIS; SYNDROME; WIEDEMANN STEINER SYNDROME; ABNORMALITIES, MULTIPLE; CASE REPORT; EXOME; GENE LOCUS; GENETICS; HIGH THROUGHPUT SEQUENCING; MUTATION; PRESCHOOL CHILD;

ABNORMALITIES, MULTIPLE; CHILD; CHILD, PRESCHOOL; EXOME; FEMALE; GENETIC LOCI; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HISTONE-LYSINE N-METHYLTRANSFERASE; HUMANS; MALE; MUTATION; MYELOID-LYMPHOID LEUKEMIA PROTEIN; PHENOTYPE;

EID: 84955184121     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/cge.12586     Document Type: Article

References (23)

1. Wiedemann HR, Kunze J, Grosse F-R, Dibbern H. A syndrome of abnormal facies, short stature, and psychomotor retardation. In: Atlas of Clinical Syndromes: A Visual Aid to Diagnosis for Clinicians and Practicing Physicians, 2nd edn. London: Wolfe Publishing Ltd., 1989: 198-199.
2. Steiner CE, Marques AP. Growth deficiency, mental retardation and unusual facies. Clin Dysmorphol 2000: 9 (2): 155-156.
3. Jones WD, Dafou D, McEntagart M et al. De novo mutations in MLL cause Wiedemann-Steiner syndrome. Am J Hum Genet 2012: 91 (2): 358-364.
4. Jude CD, Climer L, Xu D, Artinger E, Fisher JK, Ernst P. Unique and independent roles for MLL in adult hematopoietic stem cells and progenitors. Cell Stem Cell 2007: 1 (3): 324-337.
5. Ansari KI, Mishra BP, Mandal SS. MLL histone methylases in gene expression, hormone signaling and cell cycle. Front Biosci (Landmark Ed) 2009: 14: 3483-3495.
6. Strom SP, Lozano R, Lee H et al. De Novo variants in the KMT2A (MLL) gene causing atypical Wiedemann-Steiner syndrome in two unrelated individuals identified by clinical exome sequencing. BMC Med Genet 2014: 15 (1): 49.
7. Mendelsohn BA, Pronold M, Long R, Smaoui N, Slavotinek AM. Advanced bone age in a girl with Wiedemann-Steiner syndrome and an exonic deletion in KMT2A (MLL). Am J Med Genet A 2014: 164A (8): 2079-2083.
8. Koenig R, Meinecke P, Kuechler A, Schafer D, Muller D. Wiedemann-Steiner syndrome: three further cases. Am J Med Genet A 2010: 152A (9): 2372-2375.
9. 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 1981: 99 (4): 565-569.
10. 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 1981: 99 (4): 570-573.
11. Ng SB, Bigham AW, Buckingham KJ et al. Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome. Nat Genet 2010: 42 (9): 790-793.
12. Lederer D, Grisart B, Digilio MC et al. Deletion of KDM6A, a histone demethylase interacting with MLL2, in three patients with Kabuki syndrome. Am J Hum Genet 2012: 90 (1): 119-124.
13. Miyake N, Mizuno S, Okamoto N et al. KDM6A point mutations cause Kabuki syndrome. Hum Mutat 2013: 34 (1): 108-110.
14. Miyake N, Koshimizu E, Okamoto N et al. MLL2 and KDM6A mutations in patients with Kabuki syndrome. Am J Med Genet A 2013: 161A (9): 2234-2243.
15. Nakamura T, Mori T, Tada S et al. ALL-1 is a histone methyltransferase that assembles a supercomplex of proteins involved in transcriptional regulation. Mol Cell 2002: 10 (5): 1119-1128.
16. Lan F, Bayliss PE, Rinn JL et al. A histone H3 lysine 27 demethylase regulates animal posterior development. Nature 2007: 449 (7163): 689-694.
17. Guo C, Chen LH, Huang Y et al. KMT2D maintains neoplastic cell proliferation and global histone H3 lysine 4 monomethylation. Oncotarget 2013: 4 (11): 2144-2153.
18. Milne TA, Briggs SD, Brock HW et al. MLL targets SET domain methyltransferase activity to Hox gene promoters. Mol Cell 2002: 10 (5): 1107-1117.
19. Yu BD, Hess JL, Horning SE, Brown GA, Korsmeyer SJ. Altered Hox expression and segmental identity in Mll-mutant mice. Nature 1995: 378 (6556): 505-508.
20. Glaser S, Schaft J, Lubitz S et al. Multiple epigenetic maintenance factors implicated by the loss of Mll2 in mouse development. Development 2006: 133 (8): 1423-1432.
21. Ansari KI, Mishra BP, Mandal SS. Human CpG binding protein interacts with MLL1, MLL2 and hSet1 and regulates Hox gene expression. Biochim Biophys Acta 2008: 1779 (1): 66-73.
22. Agger K, Cloos PA, Christensen J et al. UTX and JMJD3 are histone H3K27 demethylases involved in HOX gene regulation and development. Nature 2007: 449 (7163): 731-734.
23. Kim JH, Sharma A, Dhar SS et al. UTX and MLL4 coordinately regulate transcriptional programs for cell proliferation and invasiveness in breast cancer cells. Cancer Res 2014: 74 (6): 1705-1717.