HUM-MOLGEN archive: DIAG (7 messages)

The following 7 messages were submitted to the DIAG Section of HUM-MOLGEN. Replies can be made directly to the originators of the messages. The messages will also be posted at the HUM-MOLGEN Website (http://www.informatik.uni-rostock.de/HUM-MOLGEN/). ------------------------------------------------------------------------- 1) From: Daniel Darvish <Darvish@poboxes.com> Subject: Gene Therapy For Myopathies Dear Scientists, Doctors, and Colleagues: I am searching for major center involved with gene therapy for the treatment of genetic myopathies. Any and all information will be greatly appreciated. Sincerely, Daniel Darvish, MD Diplomat, American Board of Internal Medicine Darvish@poboxes.com ------------------------------------------------------------ 2) From: "Suthers, Graeme (MED_GEN)" <suthersg@WCH.SA.GOV.AU> Subject: DIAG: RP3 mutation studies Dear Colleague, I am counselling a family (GF0672) with X-linked retinitis pigmentosa. The probability that the gene responsible is located between RP2 and RP3 is >99%, but there are no recombinants between the two genes and hence I do not know which gene is invloved. The family are VERY keen to have mutation studies performed to clarify carrier risks and enable accurate prenatal diagnosis. Is anyone offering to do RP3 mutation studies? If so, how much would it cost? Would you require a cell line for preparing RNA? If there is prepayment, would you offer a discount for RP2 mutation studies once that gene is cloned! Thank you for your assistance. Yours sincerely, Graeme Suthers. Dr Graeme Suthers MBBS, PhD, FRACP SA Clinical Genetics Service Centre for Medical Genetics Women's & Children's Hospital North Adelaide SA 5006 AUSTRALIA tel (08) 8204 7375 (International prefix -61-8-) NEW! fax (08) 8204 6088 (International prefix -61-8-) NEW! email suthersg@wch.sa.gov.au (Using MSmail) ________________________________________________________________________ 3) From: fiona field <ffield@uic.edu> Subject: LAD(CD18/CD11) Does anyone know of any labs offering prenatal dx for leukocyte adhesion disorder(CD18/CD11 type)??? We have a family with a prior affected that is deceased. Thanks... Fiona M. Field, MS, CGC Genetic Counselor University of Illinois at Chicago Maternal-Fetal Medicine Center 1919 W. Taylor M/C 650 Chicago, IL 60612 (312) 996-9134 (312) 996-6000 fax -------------------------------------------------------------------- 4) From: Robin Winter <rwinter@ICH.UCL.AC.UK> Organization: Institute of Child Health Subject: Patient with 47,XXX,t(8;10)(q22.1;q24.1) We have seen a 6-year old child with a de novo, apparently balanced, 47,XXX,t(8;10)(q22.1;q24.1) karyotype. Developmental delay, particularly speech, is more severe than one would expect for triple X. The parents are keen for further work to be done on the translocation. Is anyone interested in a cell line ? RM Winter, Mothercare Unit of Clinical Genetics, and Fetal Medicine, Institute of Child Health, 30 Guilford Street London, WC1N IEH Tel: 0171 242 9789 ext: 2108 Fax: 0171 831 0488 Email RWinter@ich.ucl.ac.uk --------------------------------------------------------------------- 5) From: Associazione Ricerca Neurogenetica <arn@atcenter.it> Subject: L1CAM I would like to know who can search for L1CAM mutations in a boy affected by probable Bickers Adams syndrome. Her mother have asked me for recurrence risk, before a second pregnancy. Both the mother and the child have been collected and their DNA was extracted and stored. Thank you Maria Paola Montesi Centro di Neurogenetica ASL 6 Nuovo Ospedale, Via Perugini 88046 Lamezia Terme, Italy tel 39 968 463132 fax 39 968 462413 e-mail: arn@atcenter.it ---------------------------------------------------------------------- 6) From: "Yuanli Zhao(WWW)." <zhaoyljt@public3.bta.net.cn> Subject: some knowledge of intracranial aneurysm Dear Sir, I am a neurosurgeon of Beijing Tiantan Hospital. I am interested in etiology of intracranial aneurysm,I knew that many of aneurysm is congenital, and have a genetic trend. And in some aneurysm family, their serum lipoprotein(a) level is higher. The attack of aneurysm is also associated with human's food.In weatern country and Japan, the incident rate of aneurysm is high,but in China and other Eastern country, it was low. Now our research group want to do some study of it.Would you like to give me some useful information just like article, abstract or anything else. My address is : Zhao Yuanli M.D. Department of neurosurgery Beijing Tiantan Hospital Tiantanxili 6 Beijing, 100050 P.R.China E-mail address: zhaoyljt@public3.bta.net.cn thanks a lot. Zhao yl. 96-12-4 9pm ------------------------------------------------------------------------ 7) From: Patient Request Subject: Riedel's thyroiditis Reply to: HUM-MOLGEN@nic.surfnet.nl Is there anybody out there who knows something about Riedel's struma (thyroiditis)? I'd be grateful for hints about relevant literature and possible therapies. I am a genetics researcher, but I am seeking this information for a friend with the disorder. Thank you ________________________________________________________________________