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2011
- doi: 10.1186/1750-1172-6-38
- issn: 1750-1172
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Tools Instruction and study--Methods Field guides Keys (Identification guides) Identification guides Abnormities and deformities Deformities Hand tools Handtools Stature, Small Small stature Short stature Relevancy Pertinence Administration Forensic identification Prediction Forecasts Futurology Human face Plants--Deformities Deformities in plants Abnormalities in plants Abnormalities (Plants) Botany--Teratology Abnormalities Malformations in animals Abnormalities (Animals) Animals--Malformations Animal abnormalities Animal malformations Zoology--Teratology Abnormalities in animals Deformities in animals Animals--Deformities Animal deformities Abnormalities Defects, Birth Malformations, Congenital Congenital anomalies Developmental abnormalities Congenital abnormalities Anomalies, Congenital Human abnormalities Deformities Birth defects Abnormalities Instruction and study--Methods illnessCiter ce document
L. Micale et al., « Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patients. », Serveur académique Lausannois, ID : 10.1186/1750-1172-6-38
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: 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.