Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patients.

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Serval ID
serval:BIB_819A054F1309
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patients.
Journal
Orphanet Journal of Rare Diseases
Author(s)
Micale L., Augello B., Fusco C., Selicorni A., Loviglio M.N., Silengo M.C., Reymond A., Gumiero B., Zucchetti F., D'Addetta E.V., Belligni E., Calcagnì A., Digilio M.C., Dallapiccola B., Faravelli F., Forzano F., Accadia M., Bonfante A., Clementi M., Daolio C., Douzgou S., Ferrari P., Fischetto R., Garavelli L., Lapi E., Mattina T., Melis D., Patricelli M.G., Priolo M., Prontera P., Renieri A., Mencarelli M.A., Scarano G., della Monica M., Toschi B., Turolla L., Vancini A., Zatterale A., Gabrielli O., Zelante L., Merla G.
ISSN
1750-1172 (Electronic)
ISSN-L
1750-1172
Publication state
Published
Issued date
2011
Volume
6
Number
1
Pages
38
Language
english
Abstract
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.
Pubmed
Web of science
Open Access
Yes
Create date
28/06/2011 13:28
Last modification date
20/08/2019 14:41
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