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A novel gene mutation in a Korean patient with Kabuki syndrome
- Source :
- Korean Journal of Pediatrics, Vol 56, Iss 8, Pp 355-358 (2013)
- Publication Year :
- 2013
- Publisher :
- Korean Pediatric Society, 2013.
-
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.
- Subjects :
- Kabuki syndrome
MLL2 mutation
KDM6
KS-associated genes
Pediatrics
RJ1-570
Subjects
Details
- Language :
- English
- ISSN :
- 17381061 and 20927258
- Volume :
- 56
- Issue :
- 8
- Database :
- Directory of Open Access Journals
- Journal :
- Korean Journal of Pediatrics
- Publication Type :
- Academic Journal
- Accession number :
- edsdoj.166fbdbf2f574be99701827c69dc4b3b
- Document Type :
- article
- Full Text :
- https://doi.org/10.3345/kjp.2013.56.8.355