A novel MLL2 gene mutation in a Korean patient with Kabuki syndrome / 소아과
Korean Journal of Pediatrics
; : 355-358, 2013.
Article
em En
| WPRIM
| ID: wpr-19730
Biblioteca responsável:
WPRO
ABSTRACT
Kabuki syndrome (KS) is a rare genetic disease with a distinctive dysmorphic face, intellectual disability, and multiple congenital abnormalities. KS is inherited in an autosomal dominant manner. As the primary cause of KS, MLL2 mutations have been identified in 56-76% of affected individuals who have been tested, suggesting that there may be additional genes associated with KS. Recently, a few KS individuals have been found to have de novo partial or complete deletions of an X chromosome gene, KDM6A, which encodes a histone demethylase that interacts with MLL2. Nevertheless, mutations in MLL2 are the major cause of KS. Although there are a few reports of KS patients in Korea, none of these had been confirmed by genetic analysis. Here, we report a case of a Korean patient with clinical features of KS. Using direct sequencing, we identified a frameshift heterozygous mutation for MLL2: (c.5256_5257delGA;p.Lys1753Alafs*34). Clinically, the patient presented with typical facial features, and diagnosis of KS was based on the diagnostic criteria. While KS is a rare disease, other malformations that overlap with those found in individuals with KS are common. Hence, the diagnosis of KS by mutational analysis can be a valuable method for patients with KS-like syndromes. Furthermore, in the near future, other genes could be identified in patients with KS without a detectable MLL2 mutation.
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Texto completo:
1
Índice:
WPRIM
Assunto principal:
Anormalidades Congênitas
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Cromossomo X
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Anormalidades Múltiplas
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Histonas
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Doenças Vestibulares
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Doenças Raras
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Face
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Doenças Hematológicas
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Coreia (Geográfico)
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Deficiência Intelectual
Tipo de estudo:
Prognostic_studies
Limite:
Humans
País/Região como assunto:
Asia
Idioma:
En
Revista:
Korean Journal of Pediatrics
Ano de publicação:
2013
Tipo de documento:
Article