HUM-MOLGEN archive: DIAG: 9 messages/ 1 Pt. Req.

***************************************************************** HUM-MOLGEN DIAGnostics/Clinical Research ***************************************************************** This DIAG message contains 8 professional requests and 1 patient request: 1) Seckel syndrome 2) Stickler Syndrome 3) Friedreichs Ataxia Patient request 4) Familial deafness 5) Familial lipomatosis 6) Arginase deficiency 7) 46XY der(2) Add(2)(p21) 8) Request for families with hereditary glomus tumors 9) Miyshi-type muscular dystrophy REPLIES TO PROFESSIONAL REQUESTS SHOULD BE SENT TO THE PERSON MAKING THE REQUEST AND NOT TO HUM-MOLGEN. Carlo Gambacorti, MD, Editor, Harker Rhodes, MD, Assistant Editor Human Molecular Genetics Network Diagnostics/Clinical Research Section ***************************************************************************** ***************************************************************************** 1) Seckel syndrome Our lab is involved in the study of Fanconi anemia, a rare chromosomal instability disorder with hypersensitivity to crosslinking agents. We have used somatic cell hybridization to demonstrate the existence of 8 complementation groups, each of which is thought to be connected to a distinct FA disease gene. Two of these have now been cloned by complementation cloning, and a third is underway. Seckel syndrome is a rare disease, also characterized by hypersensitivity to crosslinking agents. We are interested in obtaining EBV-immortalized lymphoblasts from Seckel syndrome patients to be used for cloning the disease gene by complementation cloning. If you have such lymphoblasts in your collection and if you are interested in a collaboration on cloning the Seckel syndrome gene, please get in touch. Dr. H. Joenje Department of Human Genetics Free University Van der Boechorststraat 7 NL-1081 BT Amsterdam The Netherlands Tel +31-20-4448270 Fax +31-20-4448285 e-mail H.Joenje.HumGen@med.vu.nl ********** 2) Stickler Syndrome I work in Brazil in a public university at Bauru city, Sao Paulo state. My area of study is medical genetics. Recently, I had examined patients with the Stickler Syndrome. We have here a hospital specialized in treatment of clefting, and there are many patients with this syndrome. I would like to know something about your experience with this syndrome. Please contact me by E-mail. Elaine Sbroggio de Oliveira Rodini <elaine@bauru.unesp.br> ********** 3) Friedreichs Ataxia Patient request Please reply to HUM-MOLGEN Apparent patient location: Germany I have Friedreichs Ataxia and in the early 1980s underwent treatment by Prof Schmidt at a Kinderklinik in Germany - somewhere around Bonn I think. I am trying to gather up-to-date info on my disability and would like to know if there is further treatment available. Also, can I get in touch with Prof Schmidt or his team of doctors? I hope you can help me. Regards ********** 4) Familial deafness I am a senior clinical geneticist at the National Center of Medical Genetics of Cuba, and I am doing research on genetic deafness. I have been studying a number of families with neurosensorial deafness (syndromic and nonsyndromic). As we do not have here the capacity for gene mapping, we are looking for collaboration with a center interested in studying the molecular genetics of deafness. Dra Estela Morales Peralta, MD PO Box 5092, Habana 5, CP 10500, Ciudad de la Habana, CUBA e-mail: fornaris@infomed.sld.cu ********** 5) Familial lipomatosis We are investigating families with multiple lipomatosis. In a search for additional families we would like to invite anyone who is interested in participating. Thank you. Dietmar Lohmann Universitaetsklinikum Essen Hufelandstrasse 55 D-45122 Essen, Germany dr.lohmann@uni-essen.de Phon +49(201)7234562 FAX +49(201)7235900 ********** 6) Arginase deficiency Is anybody interested in doing mutational study for Arginase deficiency ? I have a family with three affected child (two have passed away) Thank you Dr Rowani Mohd Rawi School of Medical Sciences Universiti Sains Malaysia Kubang Kerian 16150 Kelantan, MALAYSIA Phone: 609 7651711 ext. 2213 / 2195 / 2141 Pager: 419 Fax: 609 7653370 email: rowani@tm.net.my / rowani@kb.usm.my / rowani@emailx.com ********** 7) 46XY der(2) Add(2)(p21) Has anobody had any experience with patient with 46XY der(2) Add(2)(p21). The patient is actually under the care of a friend of mine. He is two months old, boy and is the first child of an unconsanguineous couple. He was delivered at 37 weeks of gestation with birth weight of only 2.45kg. Clinically the child appears dysmorphic with micropthalmia, microcephalus, low hair line, low set ears. The nipples are widely spaced and he has right undescended testes. There is also fixed flexion deformities of the fingers. He also has a small muscular VSD and ASD secundum.The boy was admitted since birth for a total of 3 weeks for feeding difficulty. He was subsequently discharge well but readmitted 1 week later for bronchopneumonia. Dr Rowani Mohd Rawi School of Medical Sciences Universiti Sains Malaysia Kubang Kerian 16150 Kelantan, MALAYSIA Phone: 609 7651711 ext. 2213 / 2195 / 2141 Pager: 419 Fax: 609 7653370 email: rowani@tm.net.my / rowani@kb.usm.my / rowani@emailx.com ********** 8) Request for families with hereditary glomus tumors We have established a potential genetic linkage for a family with autosomal dominant glomus tumors (OMIM 138000). These are the cutaneous neoplasms consisting of multiple layers of glomus cells lining blood filled cavities, not be to confused with paragangliomata, which are sometimes also called glomus tumors. The study is approved by the Human Subjects committee of the Duke University Medical Center. If anyone knows of any multiple generation families that would be interested in a genetic linkage study, please contact... Douglas Marchuk, Ph.D. Department of Genetics Room 277 CARL Building Duke University Medical Center Durham, NC 27710 ********** 9) Miyshi-type muscular dystrophy We are looking for a place to send blood/tissue samples of a young person with a distal myopathy susspected to be a miyshi-type muscular dystrophy. as well we seek for collaboration in the molecular genetics diagnosis of fascio scapulo humeral muscular dystrophy. With regards Gaby Vainstein. Vainstein Meir Medical Center, Israel <gaby@medscape.com ************************************************************************ ---------------------------------------------------------------------------- HUM-MOLGEN - Internet Communication Forumin Human Genetics E-mail: HUM-MOLGEN@nic.surfnet.nl WWW: http://www.informatik.uni-rostock.de/HUM-MOLGEN/ Phone: 020-5664598 (The Netherlands), (206) 386-2101 (USA) Fax: 020-691 6521 (The Netherlands), (206) 386-2555 (USA) ---------------------------------------------------------------------------- --------------- >"copyright HUM-MOLGEN"