Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome.

[kabuki syndrome]

Kabuki syndrome is a rare , multiple malformation disorder characterized by a distinctive facial appearance , cardiac anomalies , skeletal abnormalities , and mild to moderate intellectual disability . Simplex cases make up the vast majority of the reported cases with Kabuki syndrome , but parent-to -child transmission in more than a half -dozen instances indicates that it is an autosomal dominant disorder . We recently reported that Kabuki syndrome is caused by mutations in MLL 2 , a gene that encodes a Trithorax-group histone methyltransferase , a protein important in the epigenetic control of active chromatin states . Here , we report on the screening of 110 families with Kabuki syndrome . MLL 2 mutations were found in 81 /110 (74 %) of families . In simplex cases for which DNA was available from both parents , 25 mutations were confirmed to be de novo , while a transmitted MLL 2 mutation was found in two of three familial cases . The majority of variants found to cause Kabuki syndrome were novel nonsense or frameshift mutations that are predicted to result in haploinsufficiency . The clinical characteristics of MLL 2 mutation -positive cases did not differ significantly from MLL 2 mutation -negative cases with the exception that renal anomalies were more common in MLL 2 mutation -positive cases . These results are important for understanding the phenotypic consequences of MLL 2 mutations for individuals and their families as well as for providing a basis for the identification of additional genes for Kabuki syndrome .

Diseases
Validation

Diseases presenting "mll2 mutation-negative" symptom

kabuki syndrome

You can validate or delete this automatically detected symptom