HUM-MOLGEN archive: DIAG (5 messages)

The following messages have been posted to the DIAG section of HUM-MOLGEN. Please reply directly to the authors of each message rather than to HUM-MOLGEN. These messages will also be posted to our website at http://www.informatik.uni-rostock.de/HUM-MOLGEN/ Robert Resta DIAG Editor, HUM-MOLGEN -------------------------------------------------------------------- Message 1) From: "nothwang, hans gerd" <nothwang@ruf.uni-freiburg.de> Looking for patients with Senior-Loken-syndrom: I am working on the positional cloning of a gene for the Senior-Loken-Syndrome, which is characterized by familial juvenile nephronophtisis (also called medullary cystic disease) and retinitis pigmentosa. We still need some more families for a successful linkage analysis, best with two or more affected members, but single patient families would also be greatly appreciated and any material or information on families is welcome. Please contact: Hans Gerd Nothwang University Children's hospital Freiburg Mathildenstr. 1 79106 Freiburg (germany) email: nothwang@ruf.uni-freiburg.de FAX: +49 -761-270-4481 ------------------------------------------------------------ Message 2) From: GORIN@vision.eei.upmc.edu Subject: 13q deletions and Retinoblastoma This week I saw a 10 day-old child with a 13q deletion (includes the RB locus). Parents are reportedly normal. Eye exam demonstrated no lesions in either eye. How often should the infant have dilated eye exams to screen for retinoblastoma? Opinions would be very helpful. Thanks. Michael B. Gorin, M.D. Ph.D. Associate Professor Departments of Ophthalmology and Human Genetics University of Pittsburgh Sch. of Medicine and Grad. Sch. of Public Health Mail address: Dept. of Ophthalmol. - 8th floor, The Eye & Ear Institute Building 203 Lothrop Street, Pittsburgh, PA 15213 Office: (412) 647-2211 FAX: (412) 647-5880 --------------------------------------------------------------------------- Message 3) From: Chris Friedrich <cfriedri@mail.med.upenn.edu> Subject: homozygous familial hypercholesterolemia patients The Institue of Human Gene Therapy at the University of Pennsylvania, under the direction of Dr. James Wilson, is recruiting additional patients for evaluation for gene therapy trials for homozygous familial hypercholesterolemia. Transportation is available to Philadephia (USA), and patients will be admitted to the General Clinical Research Center unit at the Hospital of the University of Pennsylvania or the Children's Hospital of Philadelphia. This protocol has been approved by our IRB, and patients are assured of anonymity in any publication or presentation which may result from this work. For further information contact: Chris Friedrich, M.D., Ph.D. Assistant Professor of Medicine Division of Medical Genetics Maloney 6.40 3400 Spruce Street Philadelhia, PA 19104-4283 (215) 349-8617 cfriedri@mail.med.upenn.edu http://www.med.upenn.edu/~penngen ---------------------------------------------------------------------------- Message 4) From: "Pascal KAHLEM 42.17.68.03" <kahlemp@EXT.JUSSIEU.FR> Subject: Associations We are working on genetic neurodegenerative diseases such as DRPLA, SBMA, SCA 1, 2, 3, 7, and Huntington Chorea in France. We are looking for associations of patients for thoses diseases in the world. We already have found one in France that is "Association Huntington-France", but it is very difficult to search for those abroad. We would be pleased to be informed about any other organisation. Please feel free to contact : P. KAHLEM: kahlemp@ext.jussieu.fr Sincerily P. Kahlem ----------------------------------------------------------------------------- Message 5) From: "Angela Scheuerle, M.D." <ascheuer@ped1.med.uth.tmc.edu> Subject: Have patients. Need researcher. Good Morning, 1) Is anyone doing prenatal testing for FGFR2 mutations? I have a family with a first child with Pfeiffer who may be interested. I know that other gene mutations have been found in children with Pfeiffer, but, based upon observation that Pfeiffer children who are more 'Apert-like' have their mutations in FGFR2, I believe that this is the correct gene for this child. Neither parent is affected, so their recurrence risk is very low, but they have asked the question. Along that line, though, has anyone ever hear of gonadal mosaicism for FGFR mutations? 2) I had a patient with alpha thallasemia, ambiguous genitalia and other anomalies. I am interested in evaluation of his helicase gene. Is anyone interested? The child has died, but we have cultured fibroblasts. Angela E. Scheuerle, M.D. Assistant Professor Division of Medical Genetics Department of Pediatrics UT Health Science Center - Houston 6431 Fannin, MSB 3.144 Houston TX 77030 ascheuer@ped1.med.uth.tmc.edu