A mutation screen in patients with Kabuki syndrome.

[kabuki syndrome]

Kabuki syndrome (KS ) is one of the classical , clinically well-known multiple anomalies /mental retardation syndromes , mainly characterized by a very distinctive facial appearance in combination with additional clinical signs such as developmental delay , short stature , persistent fingerpads , and urogenital tract anomalies . In our study , we sequenced all 54 coding exons of the recently identified MLL 2 gene in 34 patients with Kabuki syndrome . We identified 18 distinct mutations in 19 patients , 11 of 12 tested de novo . Mutations were located all over the gene and included three nonsense mutations , two splice-site mutations , six small deletions or insertions , and seven missense mutations . We compared frequencies of clinical symptoms in MLL 2 mutation carriers versus non-carriers . MLL 2 mutation carriers significantly more often presented with short stature and renal anomalies (p Â =Â 0 .026 and 0 .031 , respectively ), and in addition , MLL 2 carriers obviously showed more frequently a typical facial gestalt (17 /19 ) compared with non-carriers (9 /15 ), although this result was not statistically significant (p Â =Â 0 .1 ). Mutation-negative patients were subsequently tested for mutations in ten functional candidate genes (e .g . MLL , ASC 2 , ASH 2 L , and WDR 5 ), but no convincing causative mutations could be found . Our results indicate that MLL 2 is the major gene for Kabuki syndrome with a wide spectrum of de novo mutations and strongly suggest further genetic heterogeneity .

Diseases
Validation

Diseases presenting "typical facial gestalt" symptom

cohen syndrome

kabuki syndrome

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