HUM-MOLGEN archive: DIAG: 11 messages, 4 PT requests

************************************************************** HUM-MOLGEN DIAGnostics/Clinical Research ************************************************************** This DIAG message contains 11 submessage(s): 1) Factor V Leiden 2) Rett Syndrome?--PT Request 3) 46,XY,del(11)(q21q23.3)--PT Request 4) Microsatellites 5) Lab testing for CD56 or CD24 6) Chromosome#6 abnormalities--PT Request 7) CADASIL disease--PT request 8) DGGE 9)Presenilin mutation studies 10) Saldino-Noonan Syndrome 11) Brain Tumor in MPS Carlo Gambacorti MD, Editor, Agnes Tay, MD PhD, Asst Editor Human Molecular Genetics Network Diagnostics/Clinical Research Section ************************************************************************ 1. Factor V Leiden Genotyping for Factor V Leiden is already being offered by laboratories in Europe and the US. I'm interested in hearing views on how this trend will develop in the future, prefered methods of performing the test and what would be the method and format requirement you would want to perform routine screening for this mutation. Thanks in advance for your thoughts. Tim Whiting Zeneca Diagnostics Blacklands Way Abingdon Business Park Abingdon, Oxon OX14 1DY. email: tim.whiting@ukbla71.zeneca.com -------------------------------------------------------------------------------- 2. Rett Syndrome? --PT Request Apparent patient located: US REPLY DIRECTLY TO HUM-MOLGEN Out of the blue, a year and a half ago, my daughter, then 3-plus, began to have terrible spells. She screamed a blood-curdling scream non-stop, 24 hours a day. She couldn't sleep, eat or drink. She would drop her head down on the bed, out of exhaustion, and then five minutes later, wake up screaming again. She pulled HANDFULS of hair out of her head. Since she can't talk, of course she couldn't tell me what was wrong. She began posturing with her right arm, holding it bent, palm up---and having what I've been told is ataxia. (She rolled her eyes back. When she crawled, it was a staggering, drunken crawl. She had uncontrollable movements of her upper body---arms, head, shoulders.) After a week of this, the spell suddenly ended. A week later, it started up again. Finally, she ended up in Pediatric Intensive Once again, the spell ended after about 7-10 days. Pyruvate Dehydrogenase Deficiency was suspected at this point. Luckily we did find a doctor who prescribed Diamox and THANK GOD she hasn't had a spell like this since she's been taking it---which she still does, 3 times/day. (PDH was ruled out. The E1 gene was screened for a mutation and none was found.) My daughter is now nearly five years old. She had normal (around the 50th percentile) growth in length/weight until she was 6 months old. Then, she began to fall off the curve. Sometimes she does just not want to eat at all. She has 'slightly dysmorphic features and frontal bossing'. She is mentally retarded and has hypotonia. Developmentally, she is around 11-12 months of age. Her hips are very hyperextensive. Her hands and feet are very small. Her shoulders are VERY narrow. Virtually all of her amino acids show some at least slight variance from the norm. Serum alanine ranged from mildly to sometimes very highly elevated. She also had mildly elevated lactate and pyruvate. Several EEG's have been done---all normal She's had several MRI's of the brainThe latest one, done in 6/95, was the first time dye was injected. This was also the first time it was noted that she had a 'probable right parietal lobe venous angioma". Glycogen Storage Disease and Ceroid Lipofuscinosis have been excluded by the doctors. Our new ped. neurol. came up with the possibility Rett Syndrome possibility. Most recently she has become very irritable for no reason and has also started scratching everything around her--including her own body--with both her hands. Can anyone help my child? Has anyone else seen any child like this? -------------------------------------------------------------------------------- 3. 46,XY,del(11)(q21q23.3)--PT Request Apparent patient location: US REPLY DIRECTLY TO HUM-MOLGEN I'm a mother of a 16 month old boy whose karyotype is 46,XY,del(11)(q21q23.3) My son was diagnosed with in-utero stroke based on the MRI done on his brain at birth, in which cerebral infarcts were found on both sides. He displays low muscle tone, and delay in development, but no paralysis which would've been expected from his MRI result according to a neurologist. He is also very small in size-- 18.5 pounds at 16 months. The only visible abnormality is possibly that his thumbs seem rather long. He is slightly cross-eyed, and EEG indicated that he might have some hearing loss in his left ear. His gross motor skill ranges between 9-12 months. He has received physical therapy and infant stimulation since birth, and he now goes to a county-run infant program twice a week for 2 hours. He has been "military crawling" for a while now, and is sometimes able to pull himself up to standing. He can get into a sitting position on his own, and is learning to imitate us nod and shake our heads and wave good-bye. His only sound so far is "Ma" or "mmmmMa" . We have not received any information on his condition and his doctors have no idea what to expect, although we've been told that he will most likely have some sort of retardation. We would appreciate any information, including any research ongoing into this condition. --------------------------------------------------------------- 4. Microsatellites Sir I am a medical oncologistd involved in experimental research of microsatellites instability in solid tumors. We are just developing a program in this field and it would be very useful for me to know how to get sequences of primers used to study microsatellites. In many articles is reported only the name of microsatellites with no data on sequences. Thank you very much With kind regards Francesco Graziano Dept. of Onco-Hematology Hospital of Pesaro Italy email: frada@mbox.vol.it -------------------------------------------------------- 5. Lab testing for CD56 or CD24 Please forward list of laboritories in specifically Ontario and generally Canada that test for the antigen CD56 or the surface antigen CD24.Any help appreciated. Thank You Bryan Hoelscher Canadian Cancer Research Group 5610 Richmond Rd. Nepean, Ontario K2H 7V2 hoelscher@intranet.ca ------------------------------------------------------------------- 6) Chromosome#6 abnormalities--PT request Apparent patient location: US REPLY DIRECTLY TO HUM-MOLGEN I write to you searching for any information you may have on chromosone#6 abnormalities in children. I have a seven year old niece whose number six chromosones are missing their ends.This child also has the following problems; attention deficit, hyper- activity, developmental delay, mild retardation, and micro- cephalism. Doctors here have indicated that they have no information on the chromosone abnormalityand do not know if some of the other problems are related to the abnormality. We would greatly appreciate any information you may have or anything else you think may be of help for this child. ----------------------------------------------------- 7. Cadasil Disease--PT request Apparent patient location: Morocco REPLY DIRECTLY TO HUM-MOLGEN I am a doctor practicing heart surgery in Morocco.In the summer of 1995, I contracted what is refered to as the Cadasil disease. I was treated in Georgetown Medical University in Washington D.C yet I did not get a clear diagnosis of my disease, it was not until my trip to Paris, where I was hospitalized at the Salle Petriere, in the Dr. Goudou's service. They confirmed to me that I had Cadasil disease, yet they knew little about this newly discovered disease. As of now my left leg is paralyzed to a degree of 65% which makes it extremely difficult for me to walk and work normally. I would like any information you have on this disease, which little is known about. I would especially like information on its treatment. Please send me any information to my e-mail adress or home adress which I will attach below. Thank you very much for your coperation, and I hope to hear from your department soon. ----------------------------------- 8. DGGE Dear colleagues In our lab we are going to use the new D GENE System for mutation detection by DGGE (BIO-RAD). We are studing the variability of HCV genome in terms of quasispecies. Is there anybody who can give us good suggestions on the application of these methodology in detection of sequence variation in viral RNA? Thank you in advance Elena Donadel email: labepvir@UX1.UNIPD.IT -------------------------------------------------------------------------------- 9. Presenilin Mutation Studies Dear Colleague, We have identified a family with autosomal dominant Alzheimer's disease. The proband was one of six siblings, five of whom became demented. One parent and an aunt had also had demntia. Premortem mutation analyses of the prion protein gene and of a number of triplet repeat genes from the proband were normal. We now have a detailed post mortem from the proband. This person's brain has typical features of Alzheimer's and does not have features of a prion dementia or of dementia of the frontal lobe type. We do not have blood samples from other affected family members and hence cannot do a preliminary linkage study to determine whether the gene responsible is located on chromosome 1, 14, or 21. Unfortunately we only have DNA from the proband; a skin sample collected at post-mortem failed to yield a cell line. The family are seeking presymptomatic testing. Are you able to assist us by analysing genomic DNA for a germline mutation in either of the presenilin genes or in the APP gene? 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-) fax (08) 8204 6088 (International prefix -61-8-) email suthersg@wch.sa.gov.au (Using MSmail) ____________________________________ 10. Saldino-Noonan Syndrome I have a patient who had several children affected with Saldino-Noonan Syndrome (Type I, aka Short Rib Polydactyly). He is now re-married to a woman who is unrelated to his first wife. Is anyone aware of DNA or other carrier testing for this disorder? Replies can be sent to me at: bc928@scn.org Thank you. Bob Resta Perinatal Medicine Swedish Medical Center Seattle, WA USA ------------------------------------------------------------------- 11. Brain Tumor in MPS I have a 13 month old white female patient with clinical diagnosis of a storage disease - most likely Hurler, but the confirmatory labs are pending. Head MRI done for investigation of an anterior fontanelle bruit has revealed a mass lesion in the right hypothalamus/putamen and apparent empty sella. Question: Does anyone know of any association between storage disorders (particularly MPS) and brain lesions/tumors? Thanks! Angela E. Scheuerle, M.D. Assistant Professor Division of Medical Genetics Department of Pediatrics UT Health Science Center - Houston 6431 Fannin, MSB 3.144 Houston TX 77030 ascheuer@ped1.med.uth.tmc.edu