Kabuki Syndrome Network in Japan Newsletter 歌舞伎ジャーナル  第33号


Dr. Milunskiの論文発表その後


Problems with the genetic cause for Kabuki(歌舞伎症候群原因の遺伝学上の問題点)

 It seems that Dr David Genevieve of the hospital in Neckar has not been able to reproduce the findings of Dr. Milunski when after having tested 30 children. I wonder if any others have been able to confirm the findings of Dr. Milunski.

 Neckarの病院のDr David Genevieveは、30人の子供たちを検査した後、Milunski博士の発見を追認することが出来なかったそうです。他の研究者でMilunski博士の発見を追認することが出来た人もいます。

 Dr. Milunski reported an duplication of genetic material in a small region of chromosome 8. Appearantly, so far, others have not been able to find this kind of duplication with other children that were given the clinical diagnoses of Kabuki Syndrome.


 It looks like this could mean a number of things:

* There is more than one cause for Kabuki Syndrome, and Dr. Milunski has found one. It could be the case that one gen is either activated or deactivated with individuals having Kabuki Syndrome, and that one of the ways this happens is by the duplication on chromosome 8, but that with others it is caused by another type of genetic defect, possibly even on another chromosome.

* The Kabuki syndrome is really a collection of syndromes and Dr. Milunski has found one such syndromes with it underlying genetical cause.

* Some children have been given the wrong clinical diagnoses with respect to Kabuki syndrome either by Dr. Milunski or Dr. Genevieve.





I think the last option is most unlikely of them all. Anyway it seems that the development of a blood test for Kabuki Syndrome is still far away and that we still have to live some time with the fact that only a clinical diagnoses can be made, with all it uncertainties.


"The main thing is to carry on and try to help our children. I think a pragmatic approach is the best: even if we still don't know the cause, yet we do know many things and ways to intervene/educate/help/support."