Research

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.

Facial Dysmorphology Novel Analysis (FDNA) is a company that uses face-recognition software to detect syndromes that have a distinct facial gestalt by analyzing 2D facial photos.  They will provide a simple free downloadable mobile application that can be used in the clinical settings by health professionals.  

Video presentation by geneticist Dr. Mark Hannibal at the American Society of Human Genetics 2010 meeting.

Numerous laboratories are now offering blood tests to confirm if an individual carries the MLL2 geneⁱ mutation.

A synopsis of the 2001 KSN-generated questionnaire sent to families to determine the frequency of a wide number of characteristics.

Most of us don’t have an insatiable desire to understand genetics, but we all have some basic curiosity as to what our bodies are made of.  How does it all work?

Dermatoglyphics are a helpful tool in the diagnosis of Kabuki syndrome.