HUM-MOLGEN archive: DIAG: 10 messages

************************************************************** HUM-MOLGEN DIAGnostics/Clinical Research ************************************************************** This DIAG message contains submessage(s): 1) sterility/ 45 XY, t(10,14) 2) nephrotic syndrome/WT1 gene 3) follow up on Frax Gene Therapy 4) autosomal recessive muscular dystrophy/delta-sarcoglycan gene 5) A-T study; req. for collaboration from Germany 6) follicular lymphoma cell lines request 7) congenital endothelial corneal dystrophy 8) hereditary hemorrhagic telangiectasia 9) carrier detection for Riley-Day Syndrome. 10) req. For information on molecular diagnostic lab from Brazil Carlo Gambacorti MD, Editor, Human Molecular Genetics network Diagnostics/Clinical Research Section ************************************************************** Hi My name is Rita and I work for a cytogenetics lab in Nice, France. Recently, we came across a rather puzzling case: We performed a blood karyotype for a male presenting sterility (oligoasthenospermia), and it came out: 45 XY, t(10,14), where there seems to be a fusion between the two chromosomes, 10qter-14cen. C- banding revealed the presence of both centromeres on the translocated chromosome, and there is no noticeable loss of genetic material apart from the short arms of the 14. We haven't found any reference to such a translocation in the available literature, and we will gladly welcome any information regarding this condition, phenotype and bibliographic references. Thank you --------------------------------------------------------------------------- Rita Attias Service de Cytogenetique/LABS Nice-France E-Mail: ramat@imaginet.fr -------------------------------------------------------------------------- ************************************************************** We are investigating the molecular basis of congenital nephrotic syndrome. Specifically, we are testing the possibility that mutations of the Wilms tumor (WT1) gene are responsible for at least a subset of diffuse mesangial sclerosis. Ethical approval has been obtained for this project.We require DNA, blood, or post-mortem tissue from patients with DMS. If you can help please contact me at the above email address or by FAX 44-171-916-0011, or by 'phone 44-171-242-9789 x 2635 Many thanks Dr. Ania Koziell ------------------------------------------------------------ Server protocol: HTTP/1.0 Remote host: iron.hgmp.mrc.ac.uk Remote IP address: 193.62.192.26 ************************************************************** Dear Carlo, Your posting about fragile X seems to have stimulated further activity! Teresa ---------- Forwarded message ---------- Date: Mon, 5 Aug 1996 14:20:49 +0000 From: FRAXA Research Foundation <fraxa@seacoast.com> To: Teresa Binstock <Teresa.Binstock@UCHSC.edu> Subject: Re: Frax Gene Therapy Inquiry Teresa, Thanks so much for including us in this email! We've been in touch with Dr. Paribello, and we're passing on some info about Dr. Samulski's research on this topic. We just got an update on the work; the team has developed a vector with AAV and FMR1! I'll give Randi a copy of the report at the Portland conference so you'll get a chance to see it. Katie IL64.CILEA.IT> > Subject: Frax Gene Therapy Inquiry > The following fragile X inquiry appeared on a Human Molecular Genetics > listserver; and I have responded to the list director as well as to > several prominent fragile X researchers. I've deleted all but the > fragile X section of the message. ************************************************************** We recently cloned a novel human member of sarcoglycan family of dystrophin-associated glycoproteins (HMG 5, 1179, 1186 (1996). This gene, named delta-sarcoglycan, was mapped to chromosome 5q33, where autosomal recessive limb-girdle muscular dystrophy 2F was linked. These patients have a severe Duchenne-like phenotype, but the dystrophin is only moderately reduced, while all the four sarcoglycans are absent. We are able to perform the mutation screening starting from genomic DNA, since we cloned all the exon-intron boundaries of the delta-sarcoglycan gene. Moreover, we developed polyclonal antibodies against the 35Kda protein product. We are interested to collaborate with groups who selected families with severe autosomal recessive muscular dystrophy. Linkage to D5S487 or D5S1439 should be not excluded. My Address is : Dr. Vincenzo Nigro Istituto di Patologia Generale e Oncologia Seconda Universita degli studi di Napoli. Larghetto S. Aniello a Caponapoli, 2. 80138 Napoli Italy Tel+39(81)5665675 FAX+39(81)5665695 Email pp11010@na.cybernet.it *** ATTENTION, NO STUDY APPROVAL DATA PROVIDED *** ************************************************************** My name is Markus Stumm, I am a biologist and I am the leader of the cytogenetic lab in the institute of human genetics magdeburg. Our institute is part of the university hospital Mageburg. Dipl. Biol. Markus Stumm Institut fuer Humangenetik Universitaetsklinikum Leipziger Strasse 44 39120 Magdeburg Germany Telephone: 0049-0391/67-15344 Telefax: 0049-0391/67-15066 E-mail: markus.stumm@medizin.uni-magdeburg.de In our lab we are performing prenatal and postnatal routine diagnosis. We are offering special diagnostic for AT, AT-V, ICFS and for patients who react hypersensitiv to irradiation (e. g. X-ray, gamma-ray). My main topics in science are chromosomal instability syndromes and radiosensitivity. I have performed cell fusion studies in ICFS (Schuffenhauer et al., Human Genet. 1995) and AT-V (NBS)(submitted). Also, I have performed linkage analysis of AT-V patients (Stumm et al., AJHG 1995). For further cell fusion studies (testing for heterogeneity) and linkage analysis (are soon in progress for AT-V) it it is necessary to collect more patients suffering from these rare diseases. Only an optimal number of exactly diagnosed patients, can lead to the isolation of genes responsible for these diseases. I have good connections to other labs working in this field (e.g. the german AT-consortium). Therefore, I you have any patients with clinical hallmarks of AT, AT-V or ICF please contact me for cytogenetic diagnosis. Furthermore, if you have radiosensitive tumor-patients please contact me to create a project. I am also interested in patients showing premature centromere division in metaphases. ************************************************************** mgoral@bmclib2.bhs.org (Mike Goral) sent the following comments: ------------------------------------------------------------ I am looking for a source for follicular lymphoma cell line SU-DHL-6, or any other t(14;18)(q32;q21) follicular lymphoma cell line. Can anyone help me? ------------------------------------------------------------ ************************************************************** I recently saw a baby with congenital endothelial corneal dystrophy. He is an isolated case. The parents have been examined by the ophthalmologist and have normal eyes. Dominant and recessive forms of this exist and the latter are more common with an early age of onset. However, the two patterns of inheritance cannot be reliably distinguished in an isolated case. The parents are very concerned about recurrence risk. Is anyone able to offer any way to tell whether this child represents a fresh dominant mutation or recessive inheritance? Thank you. Liz Thompson. thompsone@WCH.SA.GOV.AU ************************************************************** recently, a family with hereditary hemorrhagic telangiectasia (five patients in three generations) asked for molecular analysis. Researchers interested in DNA analysis in this families should contact Dietmar Lohmann by e-mail (dr.lohmann@uni-essen.de), fax (+49(201)7235900) of snail mail at the Universitaetsklinikum Essen Institut fuer Humangenetik Hufelandstrasse 55 D-45122 Essen, Germany ************************************************************** Please could you tell me who, if any one is doing carrier detection for Riley-Day Syndrome. Many thanks. Yours sincerely Jacquie Greenberg PhD Department of Human Genetics UCT Medical school Cape Town South Africa Email jg@anat.uct.ac.za ************************************************************** rsaad@einstein.br (Rogerio Saad Vaz) sent the following comments: ------------------------------------------------------------ Hospital Israelita Albert Einstein. Blood Bank / Molecular Biology Lab. Av. Albert Einstein 627/701 . Morumbi Sao Paulo - SP Brazil 05651-901 . Send Information about Molecular Biology (diagnostics) related to cancer and infectious diseases transmitted by blood. Names of Institutions and Researchers (Hospital/Institutions/Universities) . Thanks !! **************************************************************