title: Report of the First Clinical Case of a Moroccan Kabuki Patient with a Novel MLL2 Mutation.
abstract: Kabuki syndrome (also known as Niikawa-Kuroki syndrome) is a rare autosomal disorder, characterized by an unusual face, short stature, skeletal, visceral and dermatoglyphic abnormalities, cardiac anomalies, mental retardation, and immunological defects. Point mutations and large intragenic deletions and duplications of the mixed lineage leukemia 2 (MLL2) and exons deletions of lysine demethylase 6A (-KDM6A) genes have been identified as its underlying causes. We report on the first description of a Moroccan Kabuki syndrome patient with typical facial features, developmental delay, finger pads, and other anomalies carrying a novel splice site mutation in the MLL2 gene that produces a truncated and likely pathogenetic form of MLL2 protein.
authors: Centre de génomique humaine, Faculté de médecine et pharmacie, Université Mohammed V Souissi, Trieste, Italy ; Département de génétique médicale, Institut National d'Hygiène, Trieste, Italy.
authors: I
authors: I
authors: Ratbi
authors: N
authors: N
authors: Fejjal
authors: L
authors: L
authors: Micale
authors: B
authors: B
authors: Augello
authors: C
authors: C
authors: Fusco
authors: J
authors: J
authors: Lyahyai
authors: G
authors: G
authors: Merla
authors: A
authors: A
authors: Sefiani
keywords: Kabuki syndrome; MLL2; Splicing mutation
references: Clin Genet. 2005 Mar;67(3):209-19
references: 15691356
references: Brain Dev. 2011 Feb;33(2):174-6
references: 20444562
references: Brain Dev. 2010 Nov;32(10):829-34
references: 20061104
references: Am J Med Genet. 1988 Nov;31(3):565-89
references: 3067577
references: Am J Med Genet. 2000 May 15;92(2):87-9
references: 10797429
references: Cell. 2007 Feb 23;128(4):735-45
references: 17320510
references: Nat Rev Genet. 2002 Apr;3(4):285-98
references: 11967553
references: FEBS Lett. 2005 Mar 28;579(9):1900-3
references: 15792793
references: Nat Rev Genet. 2007 Oct;8(10):749-61
references: 17726481
references: J Pediatr Surg. 1992 Dec;27(12):1600-2
references: 1469590
references: Orphanet J Rare Dis. 2011 Jun 09;6:38
references: 21658225
references: FEBS J. 2010 Apr;277(8):1790-804
references: 20236313
references: Genet Couns. 2008;19(3):309-17
references: 18990987
references: J Pediatr. 1981 Oct;99(4):565-9
references: 7277096
references: Eur J Orthod. 2003 Feb;25(1):13-9
references: 12608719
references: Mol Genet Metab. 2012 Nov;107(3):627-9
references: 22840376
references: J Pediatr. 1981 Oct;99(4):570-3
references: 7277097
references: Am J Med Genet. 1999 Sep 17;86(3):282-4
references: 10482881
references: Proc Natl Acad Sci U S A. 2007 Nov 20;104(47):18439-44
references: 18003914
references: Am J Med Genet. 1993 Sep 1;47(3):423-5
references: 8135293
references: Mol Cell Biol. 2007 Mar;27(5):1889-903
references: 17178841
references: Am J Hum Genet. 2012 Jan 13;90(1):119-24
references: 22197486
references: Nat Genet. 2010 Sep;42(9):790-3
references: 20711175
references: J Neurosurg Pediatr. 2010 Aug;6(2):198-201
references: 20672944