HUM-MOLGEN archive: DIAG: 5 messages (1 PT.REQ.)

************************************************************** HUM-MOLGEN DIAGnostics/Clinical Research ************************************************************** This DIAG message contains 5 submessage(s): 1) marinesco-sjogren syndrome/PT request 2) DIDMOAD/Wolfram syndrome of diabetes and optic atrophy 3) prenatal testing for muscular dystrophy 4) patient with agenesis of corpus callosum 5) Darier's disease, a dominant skin disorder Carlo Gambacorti MD, Editor, Human Molecular Genetics Network Diagnostics/Clinical Research Section *********************************************************************** *********************************************************************** dear sir our daughter of 3,5 has a form of mss (marinesco-sjogren syndrome) we want to know more about this syndrome because in Holland its very rare can you please give us some more information in advance , many thanks Apparent patient location: Holland PLEASE REPLY DIRECTLY TO HUMAN MOLECULAR GENETICS NETWORK *************************************************************************** I am a clinical research fellow undertaking a study of the DIDMOAD/Wolfram syndrome of diabetes and optic atrophy. I have spent the last 2 years seeing about 35 children and adults with this condition, in order to understand the natural history, complications, and inheritance. The aim of my study is firstly to characterise the condition and share the information as widely as possible to help the clinicians looking after patients. Secondly to collect blood samples from patients and close relatives to extract the DNA and look at the genetic causes, hopefully to find the gene(s) and look for mutations that cause this. I would like to hear from clinicians who have patients with juvenile onset (under 30 years) diabetes mellitus, and optic atrophy as a minimum. I would also like to hear about patients with a related condition of thiamin responsive anemia, deafness and diabetes. My contact Email address: T.G.Barrett@bham.ac.uk *************************************************************************** There was a paper a few years ago about activation of myogenesis in amniocytes and chorionic-villus cells using MyoD, and assay for dystrophin expression for the purpose of prenatal diagnosis of Duchenne muscular dystrophy. I would like to know if this technique is currently available to test a pregnancy at risk for DMD - molecular testing is not possible in this family, and we would like to know if we can offer the family an alternative to fetal sexing and fetal muscle biopsy. I would like to hear from anyone who has information about this technique. I am a genetic counsellor in Toronto, Canada. Thanks. _______ Marlene Huggins, MSc huggins@sickkids.on.ca Genetic Counsellor ph: (416)813-5338 The Hospital for Sick Children fax: (416)813-5345 555 University Avenue Toronto, Ontario Canada M5G 1X8 *************************************************************************** I would like to share your experience regarding a patient. He is a 6 months old male with bilateral colobomas of iris, retina and optic nerve, agenesis of corpus callosum, periventricular heterotopias,unilateral corneal opacity,tonic seizures, mental retardation, normal karyotype, enophthalmia, hydronephrosis. Is this a male case of Aicardi syndrome? The severe corneal opacity is not described but it is a feature of another disorder that maps to the same region on Xp22.3. Could this be a variant of peter's anomaly plus syndrome? Suggestions? Tally Sagie MD, Pediatric Neurology ,Wolfson Medical Center, Israel ASAGIE@POST.TAU.AC.IL *************************************************************************** Hello there, I am working on Darier's disease, a dominant skin disorder. I am attempting to positionally clone the gene that causes this disease (on chr12q24). My latest piece of work involves cDNA selection. My request for this is a collaboration with anybody who could provide me with a human adult epidermal cDNA library, preferably one that has been prepared from random hexamer generated cDNA. If anyone can help me with this it would be much appreciated as there seems to be a shortage of good commercial skin derived libraries. Thank you in advance for your help Nick Jacobsen. Institute of Medical Genetics, U.W.C.M., Heath Park, Cardiff, CF4 4XN jacobsen@cardiff.ac.uk (Nick Jacobsen) ***************************************************************************