serval:BIB_819A054F1309
Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patients.
10.1186/1750-1172-6-38
000292963700001
21658225
Micale
L.
author
Augello
B.
author
Fusco
C.
author
Selicorni
A.
author
Loviglio
M.N.
author
Silengo
M.C.
author
Reymond
A.
author
Gumiero
B.
author
Zucchetti
F.
author
D'Addetta
E.V.
author
Belligni
E.
author
Calcagnì
A.
author
Digilio
M.C.
author
Dallapiccola
B.
author
Faravelli
F.
author
Forzano
F.
author
Accadia
M.
author
Bonfante
A.
author
Clementi
M.
author
Daolio
C.
author
Douzgou
S.
author
Ferrari
P.
author
Fischetto
R.
author
Garavelli
L.
author
Lapi
E.
author
Mattina
T.
author
Melis
D.
author
Patricelli
M.G.
author
Priolo
M.
author
Prontera
P.
author
Renieri
A.
author
Mencarelli
M.A.
author
Scarano
G.
author
della Monica
M.
author
Toschi
B.
author
Turolla
L.
author
Vancini
A.
author
Zatterale
A.
author
Gabrielli
O.
author
Zelante
L.
author
Merla
G.
author
article
2011
Orphanet Journal of Rare Diseases
1750-1172
1750-1172
journal
6
1
38
ABSTRACT: BACKGROUND: Kabuki syndrome (Niikawa-Kuroki syndrome) is a rare, multiple congenital anomalies/mental retardation syndrome characterized by a peculiar face, short stature, skeletal, visceral and dermatoglyphic abnormalities, cardiac anomalies, and immunological defects. Recently mutations in the histone methyl transferase MLL2 gene have been identified as its underlying cause. METHODS: Genomic DNAs were extracted from 62 index patients clinically diagnosed as affected by Kabuki syndrome. Sanger sequencing was performed to analyze the whole coding region of the MLL2 gene including intron-exon junctions. The putative causal and possible functional effect of each nucleotide variant identified was estimated by in silico prediction tools. RESULTS: We identified 45 patients with MLL2 nucleotide variants. 38 out of the 42 variants were never described before. Consistently with previous reports, the majority are nonsense or frameshift mutations predicted to generate a truncated polypeptide. We also identified 3 indel, 7 missense and 3 splice site. CONCLUSIONS: This study emphasizes the relevance of mutational screening of the MLL2 gene among patients diagnosed with Kabuki syndrome. The identification of a large spectrum of MLL2 mutations possibly offers the opportunity to improve the actual knowledge on the clinical basis of this multiple congenital anomalies/mental retardation syndrome, design functional studies to understand the molecular mechanisms underlying this disease, establish genotype-phenotype correlations and improve clinical management.
eng
60_published
true
University of Lausanne
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