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

[kabuki syndrome]

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 , MLL 2 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 , KDM 6 A , which encodes a histone demethylase that interacts with MLL 2 . Nevertheless , mutations in MLL 2 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 MLL 2 : (c .5256 _5257 delGA ;p .Lys 1753 Alafs *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 MLL 2 mutation .

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Diseases presenting "multiple congenital abnormalities" symptom

congenital adrenal hyperplasia

kabuki syndrome

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