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Posted by Caroline Andrews The reason why I am posting this message on this website is because there have been several reports in medical literature describing individual's who have a microdeletion on chromosome 22 and also have Duane retraction syndrome. It is therefore postulated that Duane retraction syndrome might be a new feature in 22q11 deletion syndrome. We would love to hear from you if you have 22q11 and Duane syndrome and to enroll you in the genetic study that we are undertaking here at Children's Hospital, Boston. Participation is very easy and we have enrolled study participants from all over the world. Ideally we would like to obtain a blood sample from each participant but if you are reluctant to have your blood drawn we would be very happy to obtain cheek swabs from you instead (although the yield of DNA obtained is usually much lower than from blood). Providing a cheek swab can be easily undertaken by simply scraping the lining of the cheek with a swab (resembling a q tip) which we will provide and can be undertaken without the need to visit your doctor. Participation also means reading and signing an informed consent form. It is also helpful (although not essential) if your ophthalmologist is willing to complete some clinical information for us. Any photographs that you have showing your eye movement is also useful and we are very interested in any other associated clinical findings that you may have. I can send the forms together with the blood tubes or cheek swabs out to you together with a FedEx diagnostic envelope. This FedEx envelope will contain our billing details and return address so that when you mail the package to our laboratory we will be charged for all shipping costs. Please feel free to contact me on 617-355-7311 or candrews@enders.tch.harvard.edu (website: www.childrenshospital.org/research/engle/duane.html) with any questions you may have and if you are interested in further information on our research study. I look forward to hearing from you. Link: http://www.childrenshospital.org/research/engle/duane.html
on 2/25/2003, 3:37 pm
134.174.22.140
Hello, I am Caroline Andrews, the Research Coordinator for a laboratory based at Childrens Hospital, Boston, USA www.childrenshospital.org/research/engle , whose focus is to identify and study the genes mutated in eye movement disorders. Duane syndrome is one such disorder that we are studying. Our lab recently identified the first Duane syndrome gene, SALL4. This gene was identified in three families who had Duane syndrome coinherited with radial ray anomalies (Okihiro syndrome or Duane radial ray syndrome) and was published in the American Journal of Human Genetics, 2002 Nov;71(5)1195-9. We believe that this gene may play an important role in development of the abducens nerve (Cranial Nerve VI).
Caroline
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