HUM-MOLGEN archive: DIAG: 5 messages/ 2 PT Req.

************************************************************** HUM-MOLGEN DIAGnostics/Clinical Research ************************************************************** This DIAG message contains 5 submessage(s): 1) otopalatodigital syndrome type 2 2) Currarino Triad/PT Request 3) Prenatal diagnosis for Hemophilia A in Japan 4) mesothelioma/PT Request 5) Kallmann's syndrome (hypogonadotropic hypogonadism and anosmia) Carlo Gambacorti MD, Editor, Human Molecular Genetics Network Diagnostics/Clinical Research Section ************************************************************** ************************************************************** I'm preparing an article on clinical/RX features of otopalatodigital syndrome type 2 and its overlap with the Melnick-Needles osteodysplasty syndrome in the male. Both are rare XL disorders: there are less than 25 detailed cases of OPD2, and only 4 males with the severe (non sporadic) form of MNS in the literature. I have already two families with OPD2 and I am expecting two further ones. I still search collaboration for new OPD2 cases (mainly if unusually severe) and male cases with MN syndrome (those whose mother is clearly affected, and who always present with severe/atypical manifestations). Only anonymized clinical data and clinical pictures are necessary. DNA of our cases (and family) are available for a Genetic Centre who is working on those diseases, and seeking collaboration ***************************************************** Alain Verloes, MD Centre for Human Genetics Liege University Phone: +32 4 366 71 24 CHU Sart Tilman Fax: + 32 4 366 81 46 B 4000 Liege E-mail: Alain.Verloes@chu.ulg.ac.be BELGIUM ***************************************************** ------------------------------------------------------------ Server protocol: HTTP/1.0 Remote host: cghu1.chu.ulg.ac.be Remote IP address: 139.165.88.74 ************************************************************** My family was diagnosed with Currarino Triad (OMIM 176450) by Dr. Janet Stewart at The Children's Hospital in Denver. We are hoping a research team will study the syndrome and find the gene for us. It is an autosomal dominant condition with variable penetration. Symptoms include: anterior meningocele/presacral mass renal reflux and other UT anomolies imperforate anus A research team in the UK found 7q36 responsible in one family, but we have been told this is not enough information to help our family. We have three, and maybe four, generations that could be studied. Any assistance or information about teams interested in studying this would be appreciated! PLEASE REPLY DIRECTLY TO HUMAN MOLECULAR GENETICS NETWORK ************************************************************** I have a patient, now living in Japan, who is a known carrier for Hemophilia A, with an identified mutation. She is currently 8 weeks pregnant and would like to have CVS for fetal sex identification and DNA analysis, if the fetus is male. Is there anyone with experience with CVS and hemophilia testing in Tokyo? Respond to: Robert Resta bc928@scn.org ************************************************************** > Normally I wouldn't send out blitzmail like this but I have some >saddening news and a very big favor to ask of all of you. > My mom, Gunisha Singh, was diagnosed about a month ago with >cancer--she has malignant mesothelioma, which is cancer of the inner chest >cavity. This is a rare and mostly incurable form of cancer. Standard >treatment like chemotherapy and radiation therapy is not very effective >against it, and by the time her particular cancer was diagnosed it was >judged inoperable by Dr. M.S. Bains of the Memorial Sloane-Kettering Cancer >Center in New York City. My mom was waiting in New York to get >into a gene-therapy treatment program at the University of Pennsylvania, but >the FDA just shut down the program because the virus the doctors there were >using was having adverse side-effects. Doctors at UPenn have restarted that >program using another virus and are now testing on animals. They will not be >ready to take human patients for some months. > Life expectancy for sufferers from mesothelioma usually ranges from >12-18 months. Please help my family. We are looking for **other treatment >options for MALIGNANT STAGE III MESOTHELIOMA,** including other gene-therapy >programs anywhere in the world. > >Thanks everyone :) PLEASE REPLY DIRECTLY TO HUMAN MOLECULAR GENETICS NETWORK ************************************************************** "We are currently screening for the autosomal genes responsible for familial cases of Kallmann's syndrome (hypogonadotropic hypogonadism and anosmia), isolated GnRH deficiency, isolated gonadotropin deficiency, or idiopathic hypogonadotropic hypogonadism. Previous studies have indicated a defect in the KAL gene at Xp22.3 in the X-linked form of this disease. We currently have 5 families (2 Hasidic, 1 Isreali [Ashkenazi], 1 Muslim, and 1 French Canadian) with apparently autosomal recessive modes of inheritance and are eager to multiplex them with others from around the world. Since two of these families are Hasidic, Ashkenazi Jews from a confined area in Brooklyn, New York, we are particularly interested in whether any familial or sporadic Ashkenazi cases could be made available for study." We can be reached at: 617 726-3038 fax: 617 726 5357 email: reproend@mgh.harvard.edu Sincerely, William F. Crowley, Jr., M.D. Stephanie Seminara, M.D. Seminara.Stephanie@MGH.Harvard.EDU ************************************************************** **************************************************************