A novel MLL2 gene mutation in a korean patient with kabuki syndromeopen access
- Authors
- Kim S.J.[Kim S.J.]; Cho S.Y.[Cho S.Y.]; Maeng S.H.[Maeng S.H.]; Sohn Y.B.[Sohn Y.B.]; Kim S.-J.[Kim S.-J.]; Ki C.-S.[Ki C.-S.]; Jin D.K.[Jin D.K.]
- Issue Date
- 2013
- Keywords
- Kabuki syndrome; Kdm6; Ks-associated genes; Mll2 mutation
- Citation
- Korean Journal of Pediatrics, v.56, no.8, pp.355 - 358
- Indexed
- SCOPUS
KCI
- Journal Title
- Korean Journal of Pediatrics
- Volume
- 56
- Number
- 8
- Start Page
- 355
- End Page
- 358
- URI
- https://scholarworks.bwise.kr/skku/handle/2021.sw.skku/62985
- DOI
- 10.3345/kjp.2013.56.8.355
- ISSN
- 2092-7258
- 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&z.ast;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 detectableMLL2 mutation. © 2013 by The Korean Pediatric Society.
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Collections - Medicine > Department of Medicine > 1. Journal Articles
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