I recently attended The MAGIC Convention 2010 in Wheeling, IL. It was once again, a wonderful time for bonding, relationship building and information gathering with leading physicians familiar with Russell-Silver Syndrome as well as info from likeminded RSS families.
On Friday, many of our RSS families attended the Genetic Study Results at 3 pm with Dr. Irene Netchine – a leading Endo and Associate Professor of the Pierre & Marie Curie School of Medicine, in Paris, France.
I will attempt to relay the information from my messy notes… <grin>…
Dr. Harbison and Dr. Netchine have concluded that of 65 RSS Patients (a genetic study from 2 years ago)…
11p15 LOM (LOM = Loss of Methylation)
13 (20%) who were clinically diagnosed – 15% had molecular anomoly idenfitication. In this category alone – Dr. H and Dr. N were both either uncertain of the RSS or felt it was unlikely these 13 children had RSS.
52 (80%) who were clinically diagnosed (Both Dr. H and Dr. N agreed to their diagnoses) 83% had molecular anomolies identified.
Of the 13 uncertain patients: 1 confirmed LOM 11p15 (7.5%), 1 confirmed MUPD7 (Maternal Uniparental Disomy) (7.5%), and 11 – 85% were negative for both 11p15 / UPD7
Of the 52 patients: 35 – confirmed 11p15 (67.3%), 8 – confirmed MUPD7 (15.4%), and 9 (17%) were negative for both. Of those 9, 33% – or 3 patients had methlyation anomalies other than the 11 & 7 chromosone with further verification necessary.
Now, for those of us who were part of the study (Ian included) – we will wait for Dr. H and Dr. N to break “the code” to determine which patient received “which” diagnosis and/or confirmed test.
You can read more from Dr. Netchine regarding epigentics and LOM in 11p15 here : http://jcem.endojournals.org/cgi/content/abstract/92/8/3148