Report of the first clinical case of a moroccan kabuki patient with a novel MLL2 mutation

Molecular Syndromology

Volumn 4, Issue 3, 2013, Pages 152-156

  Ratbi, I ^a,b   Fejjal, N ^c   Micale, L ^d   Augello, B ^d   Fusco, C ^d   Lyahyai, J ^a,b   Merla, G ^d,e   Sefiani, A ^a,b  

^a MOHAMMED V UNIVERSITY   (Morocco)

^b INSTITUT NATIONAL D HYGIÈNE   (Morocco)

^c IBN SINA HOSPITAL   (Morocco)

^d CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

^e UNIVERSITY OF TRIESTE   (Italy)

Author keywords

Kabuki syndrome; MLL2; Splicing mutation

Indexed keywords

LYSINE DEMETHYLASE 6A; MIXED LINEAGE LEUKEMIA 2 PROTEIN; MIXED LINEAGE LEUKEMIA PROTEIN; RNA ISOFORM; UNCLASSIFIED DRUG; UNCLASSIFIED ENZYME;

ARTICLE; CASE REPORT; CHILD; CLINICAL FEATURE; EXON; GENE MUTATION; HUMAN; INTRON; KABUKI MAKEUP SYNDROME; MALE; MOROCCAN; PRESCHOOL CHILD; PRIORITY JOURNAL;

EID: 84876257497     PISSN: 16618769     EISSN: 16618777     Source Type: Journal    
DOI: 10.1159/000346798     Document Type: Article

References (24)

1. Abdel-Salam GM, Afifi HH, Eid MM, el-Badry TH, Kholoussi NM: Anorectal anomalies, diaphragmatic defect, cleft palate, lower lip pits, hypopigmentation and hypogammaglobulinemia A in Kabuki syndrome: a rare combination. Genet Couns 19: 309-317 (2008
2. Adam MP, Hudgins L: Kabuki syndrome: a review. Clin Genet 67: 209-219 (2005
3. Ansari KI, Mandal SS: Mixed lineage leukemia: roles in gene expression, hormone signaling and mRNA processing. FEBS J 277: 1790-1804 (2010
4. Cartegni L, Chew SL, Krainer AR: Listening to silence and understanding nonsense: exonic mutations that affect splicing. Nat Rev Genet 3: 285-298 (2002
5. Franceschini P, Vardeu MP, Guala A, Franceschini D, Testa A, et al: Lower lip pits and complete idiopathic precocious puberty in a patient with Kabuki make-up (Niikawa-Kuroki) syndrome. Am J Med Genet 47: 423-425 (1993
6. Hong S, Cho YW, Yu LR, Yu H, Veenstra TD, Ge K: Identification of JmjC domain-containing UTX and JMJD3 as histone H3 lysine 27 demethylases. Proc Natl Acad Sci USA 104: 18439-18444 (2007
7. Igawa HH, Nishizawa N, Sugihara T, Inuyama Y: Inner ear abnormalities in Kabuki make-up syndrome: report of three cases. Am J Med Genet 92: 87-89 (2000
8. Issaeva I, Zonis Y, Rozovskaia T, Orlovsky K, Croce CM, 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
9. Kokitsu-Nakata NM, Vendramini S, Guion-Almeida ML: Lower lip pits and anorectal anomalies in Kabuki syndrome. Am J Med Genet 86: 282-284 (1999
10. Kuroki Y, Suzuki Y, Chiyo 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
11. Lederer D, Grisart B, Digilio MC, Benoit V, Crespin M, et al: Deletion of KDM6A, a histone demethylaseinteracting with MLL2, in three patients with Kabuki syndrome. Am J Hum Genet 90: 119-124 (2012
12. Lodi M, Chifari R, Parazzini C, Viri M, Beccaria F, et al: Seizures and EEG pattern in Kabuki syndrome. Brain Dev 32: 829-834 (2010
13. López-Bigas N, Audit B, Ouzounis C, Parra G, Guigó R: Are splicing mutations the most frequent cause of hereditary disease FEBS Lett 579: 1900-1903 (2005
14. Martínez-Lage JF, Felipe-Murcia M, Navarro EG, Almagro M, López-Guerrero AL, Pérez-Espejo MA: Craniosynostosis in Kabuki syndrome. J Neurosurg Pediatr 6: 198-201 (2010
15. Matsumura M, Yamada R, Kitani Y, Nishi T, Yamamoto H, et al: Anorectal anomalies associated with Kabuki make-up syndrome. J Pediatr Surg 27: 1600-1602 (1992
16. Micale L, Augello B, Fusco C, Selicorni A, Loviglio MN, et al: Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patients. Orphanet J Rare Dis 6: 38 (2011
17. Ng SB, Bigham AW, Buckingham KJ, Hannibal MC, McMillin MJ, et al: Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome. Nat Genet 42: 790-793 (2010
18. 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
19. Niikawa N, Kuroki Y, Kajii T, Matsuura N, Ishikiriyama S, et al: Kabuki make-up (Niikawa-Kuroki) syndrome: a study of 62 patients. Am J Med Genet 31: 565-589 (1988
20. Petzold D, Kratzsch E, Opitz C, Tinschert S: The Kabuki syndrome: four patients with oral abnormalities. Eur J Orthod 25: 13-19 (2003
21. Priolo M, Micale L, Augello B, Fusco C, Zucchetti F, et al: Absence of deletion and duplication of MLL2 and KDM6A genes in a large cohort of patients with Kabuki syndrome. Mol Genet Metab 107: 627-629 (2012
22. Schuettengruber B, Chourrout D, Vervoort M, Leblanc B, Cavalli G: Genome regulation by polycomb and trithorax proteins. Cell 128: 735-745 (2007
23. Wang GS, Cooper TA: Splicing in disease: disruption of the splicing code and the decoding machinery. Nat Rev Genet 8: 749-761 (2007
24. Yoshioka S, Takano T, Matsuwake K, Sokoda T, Takeuchi Y: A Japanese patient with Kabuki syndrome and unilateral perisylvian cortical dysplasia. Brain Dev 33: 174-176 (2011