HUM-MOLGEN archive: DIAG: 7 messages

************************************************************** HUM-MOLGEN DIAGnostics/Clinical Research ************************************************************** This DIAG message contains 7 submessage(s): 1) Familial Histiocytic Reticulosis 2) liver cancers/microsatellite instability 3) vascular (venous) anomalies collaboration 4) WERDNIG HOFFMAN / PT REQ. 5) blepharophimosis 6) Polycythemia vera/ PT REQ. 7) Prenatal Diagnosis of Epidermolysis Bullosa Simplex Carlo Gambacorti MD, Editor, Human Molecular Genetics network Diagnostics/Clinical Research Section ************************************************************** ************************************************************** We care for a woman whose three children succumbed to Familial Hemophagocytic Lymphoreticulosis (FEL, MIM # 26770) and is pregnant again. Is there a possibility for prenatal diagnosis? Was the gene mapped? Thanks Moshe Frydman M.D. Genetics institute Sheba Medical Center Tel Hashomer Israel E-mail mfrydman@mail.tau.ac.il ************************************************************** We are trying to obtain primary hepatocellular carcinomas (or DNAs/RNAs extracted from them) for studies of microsatellite instability and mutation. Does anyone have these for a possible collaboration? Thank you very much. Steve Meltzer University of Maryland Medicine/GI, Room N3W62 22 S. Greene Street Baltimore, MD 21201 410-706-3375 FAX 410-328-6559 email: smeltzer@umabnet.ab.umd.edu ************************************************************** Dear Colleagues, We are studying inherited forms of vascular anomalies and are looking for additional families for linkage studies on a collaborative basis. We have previously published one locus - identified by random genome mapping - for venous malformation (also called cavernous hemangioma) on Chromosome 9p (Boon et al, Hum Molec Genet 3, 1994; 1583-1587). As a collaboration we have also confirmed the linkage using another large family (Gallione et al, J Med Genet 32(3), 1995). We are currently characterizing a candidate gene in the 9p locus and with several additional families that we have been able to collect, we have identified another locus causing inherited mucocutaneous venous malformations. To narrow down the linked intervals and to clone the defective genes it would help us to have additional families. At this stage we are interested even in small families (with minimum two affected individuals). Therefore we are asking for everybodies help to identify and locate more families with similar phenotype all around the world. Looking forward to reading from you all. Sincerely yours, Miikka Vikkula, M.D., Ph.D. Research Associate Harvard Medical School phone#: (617) 432-2088 Department of Cell Biology fax#: (617) 432-0638 240 Longwood Avenue e-mail: mvikkula@warren.med.harvard.edu BOSTON, MA 02115 USA ************************************************************** We had a baby who had WERDNIG HOFFMAN and died 5 months old -have the baby's DNA. For a second baby we're trying to gather info on post-natal diognosis-recommended centers for CVS and following labratory tests. mehmet17 ma17-k@SERVIS2.NET.TR (apparent family location: Turkey) ************************************************************** I am currenlty recruiting patients (simplex) and families with blepharophimosis syndrome...type 1 or 2 in order to close the genetic interval since my initial mapping of this. Thanks Kent W. Small, M.D. Jules Stein Eye Institute UCLA Los Angeles, CA, USA SMALL@JSEI.UCLA.EDU *** ATTENTION, NO STUDY APPROVAL INFORMATION PROVIDED TO HMGN *** ************************************************************** Recently my mother(age 48) was diagnosed with polycythemia vera. Does anyone have information to aid our family in understanding possible CAUSES, remedies, treatments,etc. I am an undergraduate senior at UCSB majoring in microbiology. Any response would be much appreciated and useful. Thanks very much. Sincerely, *** PLEASE REPLY TO HUMAN MOLECULAR GENETICS DIRECTLY *** ************************************************************** Dear Sir/Madamm Can someone recommend me a DNA laboratory for prenatal diagnosis of epidermolysis bullosa simplex? Sincerely, Apiwat Mutirangura, M.D.,Ph.D. Genetics Unit, Department of Anatomy Faculty of Medicine Chulalongkorn University Bangkok 10330, THAILAND Fax 66-2-252-4963 mapiwat@NETSERV.CHULA.AC.TH **************************************************************