HUM-MOLGEN archive: DIAG: 11 messages (4 PT REQ.)

**************************************************** HUM-MOLGEN DIAGnostics/Clinical Research **************************************************** This DIAG message contains 7 professional and 4 patient requests: 1) Glycogen storage disease type 1b 2) Noonan syndrome 3) Perinatal hemochromatosis 4) Acromesomelic dysplasia 5) Marfan syndrome 6) Familial dissecting aneurysm 7) Mitochondrial disorder 8) Identical twins of opposite sex (pt request) 9) Tetrasomy X ( 48 XXXX); (pt request) 10) Spinal muscular atrophy III (pt request) 11) Adrenomyeloneuropathy (pt request) ***************************************************** Carlo Gambacorti, MD, Editor, Min Ae Lee, MD, Assistant Editor Human Molecular Genetics Network Diagnostics/Clinical Research Section ***************************************************** ***************************************************** 1) Glycogen storage disease type 1b Dear colleagues We have recently cloned a human cDNA coding for a glucose 6-phosphate translocase which is mutated in three glycogen storage disease type 1b patients (FEBS Letters, 1997, 419, 235-238). We are interested in pursuing the analysis of this gene by SCCP and therefore are looking for samples of more GSD 1b patients. These samples could be genomic DNA or material from which we could extract DNA (whole blood, white blood cells, tissue biopsies). If you would like any more information please do not hesitate to contact one of us. We thank you for your help. Maria Veiga da Cunha Emile Van Schaftingen Adress: Laboratory of physiological chemistry Institute of cellular and molecular pathology Catholic University of louvain 75, Av. Hippocrate B-1200 Brussels, BELGIUM Contacts: Tel: 32-2-7647565(4) Fax: 32-2-7647598 e-mail: veigadacunha@bchm.ucl.ac.be (Maria Veiga da Cunha) vanshaftingen@bchm. ucl.ac.be (Emile Van Schaftingen) ***************************************************** 2) Noonan syndrome Hi, I am trying to seek clarification/perspectives on a set of disorders I have come across whilst looking for genetic disorder mapping to human 12q. Noonan syndrome has been mapped to 12q (Jamieson 1994, Nat.Genet. 8:357-360, but scouring through literature I have come across reports that suggest Noonan syndrome shares characteristics with Cardio-Facio-Cutaneous syndrome and LEOPARD syndrome, and some or all of these may represent manifestations of the same entity. Are there any views out there on this point. Also is there any evidence that any or all of these may be contiguos gene disorders caused by deletions taking out several genes, or conversely that these are single gene defects? Thanks for your help. David C. Hughes, PhD MRC Institute of Hearing Research, University Park, University of Nottingham, Nottingham UK davidh@ihr.mrc.ac.uk ***************************************************** 3) Perinatal hemochromatosis Our lab has been contacted by a genetic counselor who has a case of perinatal hemochromatosis (intrauterine death at 21 weeks, ascites, edema, heavy iron deposits in myocardium, renal tubes, testes and pancreas), The parents are of Yemen/Iraq origin and are not consanguinous. The genetic counselor was interested if we could perform testing for hemochromatosis (i.e. the Cys282>Tyr mutation, I presume) but from what I have read and from information from the GI doctors here, perinatal hemochromatosis is NOT the same disease as that caused by HFE (HLA-H). I was, therefore, wondering if anyone out there was studying perinatal hemochromatosis and could give me any additional information or who would be interested in tissue from this child for analysis. Thanks. J.A.N. Janice A. Nicklas, PhD Research Associate Professor of Medicine Director, Molecular Diagnostic Laboratory Director, VCC DNA Analysis Facility University of Vermont Genetics Lab 32 N. Prospect St. Burlington, VT 05401 USA TEL# (802) 656-0016 FAX# (802) 656-8333 jnicklas@zoo.uvm.edu ***************************************************** 4) Acromesomelic dysplasia I have recently diagnosed a child, product of first cousin marriage, first child also, with acromesomelic dysplasia. I would like to know who can assist us in mutation analysis in this family. Ling-yu Shih M.D. Telephone 973-972-3326, fax 973-972-5040, Rm F536 M.S.B. Dept. Pediatric, N.H. Med School. 185 S Orange Ave. Newark, N.J. 07103 U.S.A. Thank you ***************************************************** 5) Marfan syndrome Dear Colleagues, I am a researcher in the field of human molecular genetics from Israel.I am looking for a medical center in the New-York city area (Fairlawn) to refer a child with a suspicion of marfan or marfan like syndrome. Please could you also indicate the name of a clinical expert for this disease and the name (and adress) of a laboratory looking for mutations in the fibrillin gene in new-york area. I understand that this site is more research oriented. In case you could not help me directly could you please refer me to appropriate information source. Thanks Dr Nadine Cohen Technion Faculty of Medicine Department of Genetics nadine@TECHUNIX.TECHNION.AC.IL ***************************************************** 6) Familial dissecting aneurysm Dear colleagues, Our patient, 32-year old male, has multiple dissecting aneurysms affecting common hepatic, renal, mesentric, iliac and splenic arteries. Histological examination of specimens obtained at surgery revealed a loss of elastic fibers and deposition of muchopolysaccharide-like material in the media, suggesting medionecrosis as a cause of dissecting aneurysm. He has no history of systemic hypertension. Marfan syndrome had been ruled out based on his clinical manifestations. His mother and aunt both died from rupture of aortic aneurysm at 49 years of age. This implies a genetic background underlying the disease. Any information would be greatlly appreciated regarding this type of "familial dissectin aneurysm". Yoshihisa Nojima, M.D. Third Department of Internal Medicine Gunma University School of Medicine 3-39-15 Shouwa, Maebashi, Gunma 371, Japan Fax; 0272-20-8173 E-mail; ynojima@news.sb.gunma-u.ac.jp ***************************************************** 7) Mitochondrial disorder Dear HMG List Membership, I have a young mother in Durban, South Africa, with a four year old son who is severely ill with a mitochondrial disorder; tentative diagnosis is either MELAS or Leigh's. She has been unable to locate a physician in her area that is familiar with mitochondrial disorders, and this is negatively affecting the treatment of her son's condition. It is my concern that if a physician with adequate knowledge and experience with mitochondrial disorders is not found for this family, that the resulting course will be the accelerated death of this child. Please, any information on possible contacts in the geographical area of South Africa will be most graciously appreciated. I may be contacted at the following address/phone number, or at the email address in my signature below. MELAS Online Network P.O. Box 16143 Augusta, GA 30919-2161 USA Telephone: 1-706-228-4044 melas@POSEIDON.NET Sincerely yours, Mike Jackson ***************************************************** 8) Identical twins of opposite sex (pt request) Apparent location: USA Please reply directly to HumMolGen I have been lurking long enough. Over 15 years ago I started some personal research with a view to writing a book. Then I got side-tracked, by life and circumstances. Now.. I'm back. >>I have two references in the literature to identical twins of opposite >>sex, in which the phenotypic female is an XO Turner's syndrome. (Schmidt >>et al 1976; Edwards et al, 1966) >>I would like to follow this up somehow. >>For example, does this mean the male twin is necessarily a mosaic? Or to >>be more naive, where did the other X go? And to be really dumb: are there >>degrees or extents or mosaicism? >>The little reading I have done doesn't make it clear to me the mechanism >>and so on for mosaicism. Is it at all really well understood? >>And are there degrees of identicalness? Is a twin resulting from >>separation at the 2-cell stage more identical than, say, a twin >>separating from the 16-cell stage? Can twins be unequal, for example, one >>cell vs three cells from an unequal division at the 4-cell stage. And so >There are well documented (on ultrasound for example) of singleton births >>after an initial twin pregnancy. Some of these males may have had >>Turner's syndrome twins. Is there some way, practically or theoretically, >>of investigating this. >>As you can tell I am not a geneticist, clincial or otherwise, and I >>realise from a few months of observing this list that the usual concerns >>are a bit different, which is why I am asking directly, because I have >>given up hoping to get any answers or directions from merely observing >>the list content. >>If there is a medical text you can recommend perhaps? >>I will go back into the library for a more up-to-date literature search. >>Any other suggestions or advice welcome. >>I graduated with a medical degree in 1980 and have worked in general >>family medical practice since then and now want to finish some of my >>unfinished business before I die and get old. >>Kind regards, ***************************************************** 9) Tetrasomy X ( 48 XXXX); (pt request) Apparent location: USA Please reply directly to HumMolGen I am trying to find out pertinent information on tetrasomy( 48 XXXX, tetrasomy X). I have a family member recently diagnosed with with this disorder and have had little luck finding much information . In particular, I am interested in short and long term prognosis and guidance in special treatment and education that would benefit this infant. Thank you for your help. ***************************************************** 10) Spinal muscular atrophy III (pt request) Apparent location: Switzerland Please reply directly to HumMolGen Please send me or let me know the latest research results relative to the above-mentioned disease SMA III. Is there any new medicine or therapy related to newest research? Beside the medicine for ALS from Rhone-Poulenc? Thank you very much in advance for your help. It is for a little 2 years old boy and his parents would do anything they could! Kind regards ***************************************************** 11) Adrenomyeloneuropathy (pt request) Apparent location: USA I am a twenty-six year old male who suffers from adrenomyeloneuropathy and am currently not undergoing any sort of treatment. I am curious as to what kind of information (treatment/prognosis) is available on this subject. Thank you ***************************************************** HUM-MOLGEN - Internet Communication Forum in Human Genetics E-mail: HUM-MOLGEN@nic.surfnet.nl WWW: http://www.informatik.uni-rostock.de/HUM-MOLGEN/ Phone: 020-566 4598 (The Netherlands), (206) 386-2101 (USA) Fax: 020-691 6521 (The Netherlands), (206) 386-2555 (USA) ---------------------------------------------------------------------------- ----------------- "copyright HUM-MOLGEN"