A novel MLL2 gene mutation in a Korean patient with Kabuki syndrome.
10.3345/kjp.2013.56.8.355
- Author:
Soo Jin KIM
1
;
Sung Yoon CHO
;
Se Hyun MAENG
;
Young Bae SOHN
;
Su Jin KIM
;
Chang Seok KI
;
Dong Kyu JIN
Author Information
1. Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea. jindk@skku.edu
- Publication Type:Case Report
- Keywords:
Kabuki syndrome;
MLL2 mutation;
KDM6;
KS-associated genes
- MeSH:
Abnormalities, Multiple;
Congenital Abnormalities;
Face;
Hematologic Diseases;
Histones;
Humans;
Intellectual Disability;
Korea;
Rare Diseases;
Vestibular Diseases;
X Chromosome
- From:Korean Journal of Pediatrics
2013;56(8):355-358
- CountryRepublic of Korea
- Language:English
-
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.
