Kabuki Syndrome Network in Japan Newsletter 歌舞伎ジャーナル  第32号


Dear Members,

There has been some discussion again on the topic of how Kabuki is diagnosed and whether or not there is a 'blood test' to confirm diagnosis. I'd like to clarify: There is no definitive test for diagnosing Kabuki - yet. Geneticists must rely strictly on presenting characteristics. The criterium for diagnosis is usually that the child must have four of the following five cardinal manifestations:


characteristic facies-特異な顔貌

skeletal anomalies-骨格異常

dermatoglyphic anomalies-皮膚紋理異常

mental retardation (intellectual disability)- 精神遅滞 (知的障害)

short stature-低身長

The characteristic facies is imperative.

Associated features, which are also looked at but which are not cardinal

manifestations: 関連特徴が見受けられるが発現ではない。

1. neonatal hypotonia and feeding difficulties:- 新生児低圧又は哺乳障害

2. recurrent infections-回帰感染

3. congenital heart defects-先天性心疾患

4. reno-urinary malformations 泌尿生殖器の異常

5small mouth, micrognathia (smallness of the jaws), cleft/high arched

palate, hypodontia (missing teeth)

小顎症, 小さな口、アーチ型の口蓋、口蓋裂、口唇裂、歯数不足症


7early breast development早熟の乳房発達


Dr. Milunsky has presented a study in which 6 children all had a duplication on chromosome 8p22-8p23.1 and an inversion at 8p23.1. All mothers of these 6 children also had the inversion at 8p23.1. Please go to http://www.kabukisyndrome.com/files.html to read further.

 Dr. Milunsky の研究により、研究対象の6人の子供が皆、8p22-8p23.1染色体を複数持っていて、また8p23.1の染色体に逆転があったことを発表しました。また、6人の子供すべての母親に8p23.1の逆転がありました。

詳しい情報は http://www.kabukisyndrome.com/files.html  を参照してください。

In speaking to him recently, there are now 13 families on which the studies have been completed on - all showing the same results. There are now about 80 families which are participating in his study - from Australia, Japan, France, Belgium, Canada, and the USA, just to name a few. Dr. Milunsky was very appreciative of the many families who are participating and is always looking for more.

 最近の彼の話によると、この研究が終了した13家族の結果はすべて同じである。現在、オーストラリア、日本、フランス、ベルギー、カナダ、および米国からのおよそ80家族が研究に参加している。Dr. Milunskyは、多くの家族の参加に非常に感謝しており、より多くの参加者を期待していると言うお話でした。

They have found that all the children have the same area affected (8p22-23.1). To further add to the excitement of their findings, they're discovering some have a greater proportion of this area duplicated than others. So to better understand, if the 8th chromosome were divided into A-Z areas and all children in his studies have the C-G area duplicated....some may have only C-E duplicated, others may have D-G duplicated....but ALL remain in the same C-G zone. I asked him if it's true that the greater the area (say the entire C-G zone), the greater the disabilities? He said no, that's not the case because some genes can be duplicated and not have an effect on the person, others do. He said that they continue to look with greater detail at the genes in this duplicated area to better understand the syndrome.

 彼らは、すべての子供で同じゾーン (8p22-23.1)が影響していることがわかりました。さらにそれらの発見に関連して、このゾーンでの重複は他と比べて割合的に多い事が解ってきています。分かりやすく言うと、例えば8番目の染色体がA-Zゾーンに分割されて、研究に参加しているすべての子供のC-Gゾーンが重複しているとすると、ある子供はC-Eのみ重複しており、他の子供はD-Gを重複しているとします。しかしみんな同じC-Gゾーンで重複していることから、私はDr. Milunskyに次のように質問しました。障害の度合いはゾーンの広さと関係ありますか?例えばC-Gゾーンすべてが重複した場合、障害は最もひどくなりますか?Dr. Milunskyの回答は、ゾーンの広さによって障害は影響されません。遺伝子の中には、重複しても人間に何も影響しない場合もあります。この複製ゾーンの遺伝子をもっと研究して、歌舞伎症候群の理解に努めたいということでした。

Dr. Milunsky said that his findings must be consistent with many more families before it is ready to go to the clinical setting. In other words, they, along with other researchers, need to consistently get similar results before it can become a diagnostic tool for Kabuki. I think we can all imagine how traumatic it would be to diagnose children based on genetic testing of blood samples, only to find out later that the testing was not accurate.

 Dr. Milunskyは、臨床上で実現する前に、この結果がもっと多くの家族と一致する必要があると話しています。言い換えれば、歌舞伎症候群用の診断ツールとして利用する前に、他の研究者と共に一貫して同様の結果を得る必要があります。血液サンプルの遺伝子検査を基に子供を診断して後でテストが正確でないと分かったら、どれほどのトラウマとなるか容易に想像することができると思います。

I asked Dr. Milunsky if they knew what percentage of the general female population has an 8p23.1 inversion that do not have children with Kabuki? This is important to know to calculate the percentage of chance a person with an 8p23.1 inversion has of having a child with Kabuki. Because, of course, if my other girls also have the same 8p23.1 inversion I have, it would be very helpful if they could get relatively accurate genetic counselling. Unfortunately, though, he said this is not yet known. But he said these are all questions that future studies will answer.


In regards to whether Dr. Ming is exclusively studying the exact same region of the chromosome as Dr. Milunsky, I don't know. I do know that he is also studying the etiology of Kabuki and it is therefore important for us to participate in his study also. I certainly like the idea that a handful of scientists are looking for the cause of Kabuki. It's important we don't participate in these studies looking for a diagnosis for our child, but instead to give the researchers an opportunity to understand this syndrome at a genetic level. Here is an opportunity for all of us to make a difference!

 Dr. Ming Dr.Milunskyと全く同じ研究をしているかという質問に対して、私は知らないと答えました。彼が歌舞伎症候群の病因を研究していることは知っています。従って我々が彼の研究にも参加する事が重要です。確かに我々科学者が歌舞伎症候群の原因を探しているということが大事です。我々が子供のための診断方法を探すことより、遺伝子レベルでこの症候群を理解する機会を研究者に与えるために、この研究に参加するべきです。これが、現状を変えるために私達に与えられた機会です。

Hope this helps to clarify!

Margot Schmiedge

Kabuki Syndrome Network

c/o Margot Schmiedge

8060 Struthers Cr.

Regina, Sask. S4Y-1J3


Ph# 306-543-8715

URL: www.kabukisyndrome.com