HUM-MOLGEN archive: DIAG: 9 messsages/4 PT Req.

************************************************************** HUM-MOLGEN DIAGnostics/Clinical Research ************************************************************** This DIAG message contains 9 submessage(s): 1) Genotyping archeological remains 2) anti-trypsin deficiency/autopsy 3) Urbath-Wiethe (lipoidproteinosis) 4) Byler Disease (Liver disease)/PT Req. 5) 6p24 to 6pter deletion/PT Req. 6) Wolfram's syndrome-DIDMOAD/PT Req. 7) Hereditary bone dysplasia (McKusick #112250) 8) OLIVOPONTONEOCEREBELLAR HYPOPLASIA/PT Req. 9) ACC (aplasia cutis congenita) Carlo Gambacorti MD, Editor, Human Molecular Genetics Network Diagnostics/Clinical Research Section ************************************************************** ************************************************************** Hi everyone: I was invited to collaborate with some archeologists and they send some human bones to me. I need to know what are the best methods in order to get DNA out of those bones and which might be the best markers to genotype them. The archeologists are interested in knowing if the bones belong to the same group, family etc. Thank you for any information or reference. Jose Mejia jmejia@po-box.mcgill.ca fax: (514) 398-4370. ************************************************************** We have an autopsy problem case of a young man who had an undiagnosed liver disease pre-mortem, which on liver biopsy was thought to possibly be alpha one anti-trypsin deficiency, but serum was reported as normal levels of MM. He died suddenly and at autopsy he has bridging fibrosis, striking DPAS granules that look all the world like alpha one antitrypsin as well as plexogenic pulmonary vasculopathy (which can be seen in any chronic fibrosing liver disease, but which presumably explains his sudden death). It is a consult case and lungs were not well inflated precluding assessment of emphysema. Does anyone have any ideas on "false negative" alpha one levels and is there any more workup we can do now? Robert Homer, MD-PhD e-mail Homer@biomed.med.yale.edu Asst Prof of Pathology fax 203 785 7303 Yale University School of Medicine tel 203 785 2788 PO Box 208023 New Haven, CT 06520-8023 ************************************************************** We would like to develop linkage studies in a family with Urbath-Wiethe (lipoidproteinosis) with two members affected out of a kindred of 7 with both parents alive. Further details may be sent upon request. Prof. Walter Oleschko Arruda Department of Neurology Hospital de Clmnicas Universidade Federal do Parana Rua General Carneiro 181 80060-900 Curitiba, PR Brazil FAX 55-41-243-2450 ------------------------------------------------------------ ************************************************************** I am looking for information on Byler Disease (Liver disease). I am seaching for this information because my niece(only 15 months old) has it. Who can tell me more about the treatment, what can solve the itching and her lack of hunger? I thank you in advance!! PLEASE REPLY DIRECTLY TO HUMAN MOLECULAR GENETICS NETWORK HUM-MOLGEN@NIC.SURFNET.NL Apparent patient location: Belgium ************************************************************** I am the mother of a 3 yr old boy with a 6p deletion (6p24 to 6p ter). The children who have this deletion may present as possibly having Aarskogg Syndrome (boys) or Turner Syndrome (girls), but the children have Deafness too. I would like to share and exchange information with researchers and other families about this very rare syndrome. I do have contact with 5 families that have living children with either 6p24- or 6p25- but not with both bands deleted like my son. PLEASE REPLY DIRECTLY TO HUMAN MOLECULAR GENETICS NETWORK HUM-MOLGEN@NIC.SURFNET.NL Apparent patient location: USA (VA) ************************************************************** I am the parent of a 10 year old female who was diagnosed with Wolfram's syndrome about 4 years ago. I would like to know if there are support groups of parents. I need to make some educational decisions for my daughter and I need some help! PLEASE REPLY DIRECTLY TO HUMAN MOLECULAR GENETICS NETWORK HUM-MOLGEN@NIC.SURFNET.NL Apparent patient location: USA (CA) ************************************************************** Dear Colleague: We are studying the natural history and molecular biology of a rare bone dysplasia and are seeking additional patients and their families. 3Hereditary bone dysplasia with malignant changes2, is an autosomal dominant (McKusick9s Mendelian Inheritance in Man #112250), bone disorder characterized by diaphyseal medullary stenosis, necrosis, and infarctions with overlying cortical thickening of the long bones. The disease typically manifests itself in the form of pathologic fractures secondary to minimal trauma with subsequent poor healing or non-union of the fracture and a predisposition to the formation of a highly malignant fibrous histiocytoma / fibrosarcoma in an infarcted lesion in the second to fifth decades of life (Ann Int Med 78:902; and, J Bone & Joint Surgery. 68A:1079, 1986). We have recently identified the fourth known family with this rare dysplasia and described a more tumor-sensitive screening agent (Ped Radiol 26:675, 1996). The Department of Human Genetics at the Mount Sinai School of Medicine offers expertise in the application of molecular, biochemical, cytogenetic, and somatic cell approaches for the study of genetic diseases and outstanding clinical services dedicated to the care of affected individuals and their families. Our laboratory has most recently mapped and identified the pycnodysostosis gene (Nat Genet 10:235, 1995; Science 273:1236, 1996, respectively) and has also refined the critical region for cleidocranial dysplasia (Am J Med Genet. 58:200, 1995). In collaboration with the original investigators, who provided the earliest clinical descriptions of 3hereditary bone dysplasia2, we have initiated a positional cloning project to identify the causative disease gene. Additionally, we are defining the natural history and phenotypic variability of this disorder. We are actively searching for additional patients and their families to facilitate these studies. If you are aware of any patients who might be willing to participate, kindly contact us by telephone (212)241-6947, fax (212)360-1809 or e-mail (jam@msvax.mssm.edu). All research will be performed under IRB approval and all samples will be effectively protected against identification of the patient/donor. Thank you in advance for your kind cooperation in this matter. Sincerely yours, John A. Martignetti M.D., Ph.D. Departments of Human Genetics and Pediatrics Mount Sinai School of Medicine Department of Human Genetics New York, N.Y. 10029 jam@msvax.mssm.edu ************************************************************** DEAR SIRS, I AM IN NEED OF ALL THE RESEARCH DATA CONCERNING (PONTONEOCEREBELLAR OR OLIVOPONTONEOCEREBELLAR HYPOPLASIA) I have a 40 day old, male, 37wk, 2.34kg at birth,child. MRI shows brain abnormalities. poor but stabil Resp. I think it is pontoncerebellar hypoplasia but can find little info in MED.LIB.. Also who and where are the experts on this disease. thanks PLEASE REPLY DIRECTLY TO HUMAN MOLECULAR GENETICS NETWORK HUM-MOLGEN@NIC.SURFNET.NL Apparent patient location: USA ************************************************************** Dear colleagues, I'm working on a linkage study of ACC (aplasia cutis congenita), congenital skin absence on the head, and found a possible disease locus in one large family. Does anybody know of other families with ACC? I would greatly appreciate your collaboration or any information and help you could give me. Shoji Watanabe, M.D. Ph.D. Research Fellow Harvard Medical School Dept. of Cell Biol. 240 Longwood Ave. Boston, MA 02115 Tel; 617-432-2088 Fax; 617-432-0638 e-mail; swatanab@warren.med.harvard.edu ************************************************************** ------------------------------------------------------------- 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"