HUM-MOLGEN archive: DIAG: 7 messages (2 PT. REQ.)

************************************************************** HUM-MOLGEN DIAGnostics/Clinical Research ************************************************************** This DIAG message contains 7 submessage(s): 1) Genetic approaches to pain 2) diagnosis of Smith-Lemli-Opitz syndrome 3) Iduronate sulphatase deficiency 4) BOWENOID HPV/ PT. REQ. 5) Meckel-Gruber/ PT. REQ. 6) Ataxia and retinitis pigmentosa 7) Klippel-Feil syndrome Carlo Gambacorti MD, Editor, Human Molecular Genetics network Diagnostics/Clinical Research Section ************************************************************** ************************************************************** We would like to contact groups working on the genetics of congenital insensitivity to pain - dysautonomias or other syndromes. If you are there, please contact me on ucgajwo@ucl.ac.uk. Thankyou. John N. Wood Ph.D. Medawar Building Room A2 Department of Anatomy and Developmental Biology, University College, Gower Street, London WC1E 6BT England tel/FAX 44-0171-380-7800 ************************************************************** Dear Colleague, We are using measurements of 7-dehydro-cholesterol to confirm our clinical diagnoses of Smith-Lemli-Opitz syndrome. We have been reassured that our clinical diagnoses have been confirmed by the laboratory test, and have used these studies for prenatal diagnosis. We are concerned that we may be failing to test children who have abnormalities of cholesterol metabolism and relatively mild or non-specific clinical features. We would be interested in your experience. How wide is the spectrum of phenotypic abnormalities in children with abnormal 7DHC measurements? What criteria do you use in deciding which children to test? Should we be testing all babies with non-specific dysmorphic features and moderate developmental delay? I would value your comments. Yours sincerely, Graeme Suthers. ________________________________________________________________________ Dr Graeme Suthers SA Clinical Genetics Service Centre for Medical Genetics Women's & Children's Hospital North Adelaide SA 5006 AUSTRALIA tel (08) 204 7375 (International prefix -61-8-) fax (08) 204 6088 (International prefix -61-8-) email suthersg@wch.sa.gov.au (Using MSmail) >> Please note new email address << ************************************************************** Dear Sir/Madam: I have received a request from a family in Argentina that has a young boy that has been diagnosed with a mucopolyssacharidosis, most likely iduronate 2 sulphatase deficiency. Can you please let me know if there is any new treatment available and lab. test to confirm the diagnosis?. They are havin ga hard time getting current information on possible treatment and specialists due to the rarity of the dissease. Sincerely Dr. Gabriela Dveksler Dveksler@USUHSB.USUHS.MIL ************************************************************** PRESENTING MY PLEA FOR ANY INFORMATION. >>I HAVE HAD WIDESPREAD BOENOID/HPV INFECTION OF LOWER GENITAL TRACT, PERINEUM, PERI-ANAL REGION AND NATAL CLEFT AND MULTIFOCAL INTRAEPITHELIAL NEOPLASIA OF THE LOWER GENITAL TRACT, NAMELY CERVIX, ANTERIOR VULVA, PERINEUM AND NATAL CLEFT. >>THESE AREAS WHERE ATTENDED TO WITH EXTENSIVE SURGERY. I AM INTERESTED IN ANY EXPERIMENTAL GENETIC/IMMUNOLOGIC/PHARMACOLOGIC TREATMENT FOR MY DISEASE. >>PLEASE, PLEASE ANY INFORMATION URGENT. >>DOB 31/01/1960 >>FEMALE Apparent patient location: Australia *** PLEASE, REPLY TO HUMAN MOLECULAR GENETICS DIRECTLY *** ************************************************************** I have recently had 2 pregnancies result in very unhealthy babies which did not survive. The autopsy findings suggest the possibility of Meckel-Gruber syndrome, hover it is not a clinical case of Meckel. I am desperatly looking for more research on Meckel/ more opions on wether this diagnose could be more accurate. Please help me or guide me in another direction. I am desperate to know as much as I possibly can. Gratefully, Apparent patient location: USA *** PLEASE, REPLY TO HUMAN MOLECULAR GENETICS DIRECTLY *** ************************************************************** > > Dear Colleague: > > > Some months ago I was challenged by a family with a distinct autosomal > dominant cerebellar ataxia associated with visual failure secondary to > retinal pigmentary changes. Ages of onset and clinical course were > variable(visual failure was not a feature in some patients of this family), > but ataxia was a constant feature. Transmission of the disease to severe, > infantile-onset cases occured in two siblings and both had a severe course, > dying during adolescence.The ophthalmological examination always disclosed > retinitis pigmentosa in those who are blind. > > Almost all of the affected adult patients in this family have already > died. One affected young lady is living in the US but I do not know > specifically where she is receiving medical care. One affected male living > in Rio de Janeiro, now aged 27 is completely blind and has hyperactive > tendon reflexes and some other severe neurological features besides > ataxia.His intellect is apparently normal. His mother was blind and ataxic > and died from the progressive disease about two years ago. Two married and > apparently "healthy" brothers at ages 32 and 35 want desperately a > presymptomatic diagnosis since they are planning to have children. > > I searched the literature and found a report from Enevoldson et al (Brain > 117:445-60, 1994) on 54 members of eight families in England, who > presented with features similar to those here described. As far as I know, > the gene mutation of this type of ataxia and blindness is still unknown > and there is a possibility that like other types, it may consist of an > unstable trinucleotide repeat expansion.The report of Gouw et al. > (Neurology, 44:1441-7, 1994 is also pertinent and they have done linkage > analysis to both SCA1 and SCA2. > > We plan to report this family as soon as possible.I would value comments > of anyone with some clinical and genetic experience with a similar > family.Would anyone doing research in the area of molecular neurogenetics > be interested in getting a blood sample from the above mentioned patient > with the purpose of studying the gene mutation? > > > If someone is interested please contact me. > > Sincerely, > > Gerson Carakushansky, M.D. > Federal University of Rio de Janeiro > Instituto de Pediatria Martagao Gesteira da UFRJ > Genetica > Rio de Janeiro 21941-590 - Brazil > FAX: (5521)227-3441 > E-mail: gercar@unisys.com.br ************************************************************** We have been studying a number of families with skeletal and spinal defects. We wish to identify parties interested in collaborating in identifying genes inv olved in the Klippel-Feil syndrome, Slipped capital epiphysis and hemivertebrae R.Clarke@unsw.edu.au (Raymond Clarke) sent the following comments: **************************************************************