90 179

Cited 0 times in

A novel MLL2 gene mutation in a Korean patient with Kabuki syndrome

Authors
Kim, SJ; Cho, SY; Maeng, SH; Sohn, YB; Ki, CS; Jin, DK
Citation
Korean journal of pediatrics, 56(8):355-358, 2013
Journal Title
Korean journal of pediatrics
ISSN
1738-10612092-7258
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*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.
Keywords
Kabuki syndromeMLL2 mutationKDM6KS-associated genes
Appears in Collections:
Journal Papers > School of Medicine / Graduate School of Medicine > Medical Genetics
AJOU Authors
손, 영배
Full Text Link
Files in This Item:
355-358.pdfDownload
Export
RIS (EndNote)
XLS (Excel)
XML

qrcode

해당 아이템을 이메일로 공유하기 원하시면 인증을 거치시기 바랍니다.

Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.

Browse