Kabuki Syndrome - Another Locus?

Another Locus?Approximately 75% of individuals with a clinical diagnosis of Kabuki are caused by an MLL2 mutation.  According to a study published in July 2011 the presenting characteristics of MLL2 mutation-positive cases did not differ greatly from the MLL2 mutation-negative cases. the one exception being that renal anomalies were more common in the mutation-positive group. This continues to suggest that Kabuki may be a heterogeneous syndrome.  This means it could be caused, or contributed to, by varying different genes.  The search is on to find other contributory genes.  This article explores the mutation of the TRPS1 gene in 2 individuals with a Kabuki diagnosis.

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