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

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dc.contributor.authorKim, SJ-
dc.contributor.authorCho, SY-
dc.contributor.authorMaeng, SH-
dc.contributor.authorSohn, YB-
dc.contributor.authorKi, CS-
dc.contributor.authorJin, DK-
dc.description.abstractKabuki 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.-
dc.titleA novel MLL2 gene mutation in a Korean patient with Kabuki syndrome-
dc.subject.keywordKabuki syndrome-
dc.subject.keywordMLL2 mutation-
dc.subject.keywordKS-associated genes-
dc.contributor.affiliatedAuthor손, 영배-
dc.type.localJournal Papers-
dc.citation.titleKorean journal of pediatrics-
dc.identifier.bibliographicCitationKorean journal of pediatrics, 56(8):355-358, 2013-
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Journal Papers > School of Medicine / Graduate School of Medicine > Medical Genetics
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