MLL2 mosaic mutations and intragenic deletion-duplications in patients with Kabuki syndrome.
Clin Genet
; 83(5): 467-71, 2013 May.
Article
en En
| MEDLINE
| ID: mdl-22901312
ABSTRACT
Kabuki syndrome (KS) is a rare multi-system disorder that can result in a variety of congenital malformations, typical dysmorphism and variable learning disability. It is caused by MLL2 point mutations in the majority of the cases and, rarely by deletions involving KDM6A. Nearly one third of cases remain unsolved. Here, we expand the known genetic basis of KS by presenting five typical patients with the condition, all of whom have novel MLL2 mutation types- two patients with mosaic small deletions, one with a mosaic whole-gene deletion, one with a multi-exon deletion and one with an intragenic multi-exon duplication. We recommend MLL2 dosage studies for all patients with typical KS, where traditional Sanger sequencing fails to identify mutations. The prevalence of such MLL2 mutations in KS may be comparable with deletions involving KDM6A. These findings may be helpful in understanding the mutational mechanism of MLL2 and the disease mechanism of KS.
Texto completo:
1
Banco de datos:
MEDLINE
Asunto principal:
Anomalías Múltiples
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Enfermedades Vestibulares
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Eliminación de Gen
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Duplicación de Gen
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Proteínas de Unión al ADN
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Enfermedades Hematológicas
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Mosaicismo
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Mutación
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Proteínas de Neoplasias
Tipo de estudio:
Diagnostic_studies
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Prognostic_studies
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Risk_factors_studies
Límite:
Child
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Child, preschool
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Female
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Humans
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Male
Idioma:
En
Revista:
Clin Genet
Año:
2013
Tipo del documento:
Article
País de afiliación:
Reino Unido