HUM-MOLGEN archive: DIAG:4 messages, 2 pt requests

************************************************************** HUM-MOLGEN DIAGnostics/Clinical Research ************************************************************** This DIAG message contains 4 submessage(s), 2 patient requests: 1. Pseudoxanthoma Elasticum 2. Hirschsprung--pt request 3. Myopathy--pt request 4. hemoglobin structure Carlo Gambacorti MD, Editor, Agnes Tay, MD PhD, Asst Editor Human Molecular Genetics Network Diagnostics/Clinical Research Section ====================================================== 1. Pseudoxanthoma Elasticum I was recently consulted by a family with an isolated case of pseudoxanthoma elasticum. In reviewing the litterature and OMIM I was struck by how vague the information was on mode of inheritance and risks for other members of the family. I would therefore like to contact medical and molecular geneticists with special expertise in this condition for further information. Sincerely yours, Jon J. Jonsson, M.D., Ph.D. Docent and Director Department of Clinical Biochemistry Landspitalinn - University Hospital of Iceland Baronsstig 101 Reykjavik ICELAND Tel.: 011-354-560-1840 FAX: 011-354-560-1810 email: jonjj@rsp.is =============================================== 2. Hirschsprung--pt request PLEASE REPLY DIRECTLY TO HUM-MOLGEN I'm from Venice, Italy. I have a very serious health problem and I need helpt o resolve it. I am 15 years old and I have suffered different surgical operations till now, but I had no profit. I look for a contact with whoever has had or knows the intestinal congenital illness called Megacolon or Morbo of HIRSCHSPRUNG, suffered surgical operation and is between 12 and 20 years old. I look for a contact also with doctors and other persons able to experts help me. =============================================== 3. Myopathy--pt request PLEASE REPLY DIRECTLY TO HUM-MOLGEN APPARENT PATIENT LOCATION:US Help! My 10 yr old daughter has been clinically evaluated with an undiagnosable myopathy (proximal/hip-girdle muscle weakness with hypertrophied and hypotrophied muscle groups). Three years and countless tests have resulted in no firm diagnosis. Surgically repaired Tetralogy of Fallot heart condition at age 3.3 Here is what I know technically about our little girl: CBC (results high): Phosphorus (5.4), Creatinine (0.4), T-4 (11.2), Alkaline Phosphatase (175), SGPT (417), SGOT (239), CPK (7650-9700); Creatinine low, Carnitine free < ref value, Dystrophin Neutral and Acid Maltase levels unremarkable; EMG: Complex repetitive discharges (2+CRD), MUP low amplitude, suggestive of chronic myopathic process. Denervation changes. Biomed: Copper low in Cytochrome Oxidase; O2 consumption in Mitochondria increased above normal, nanoatoms of O2 per Cytochrome a3 is 0.77 Complex NADH-cyt C Reductase enzyme are high (1.986 umoles/min/g) Genetic: X-inactivation normal (known proteins ok, triple repeats negative, no family history of Muscular Dystrophy; Phenotype suggests Dystrophinopathy, but X-Inactivation tests did not document a protein abnormality. Negative manifestation carrier for Duchenne and Beckers Biopsy: Abnormal; mild focal inflammatory response, increase in both Endomysial and Perimysial connective tissue and fat. Abnormal amount of Polysaccharides or neutral fats. NADH-TR reaction shows granularity of degenerative and regenerative fibers (70% type I) Immuno: Immunoflourescence suggests only secondary protein deficiency due to all fibers variable versus 3 test proteins (Adhalin, Merosin, and Beta-Dystoglycan). Many more positive than negative fibers exist. Top biomedical pharmacologists suggest there is nothing in the literature similar to this case (i.e. Michele is a unique test case). Thanks from Michele (in advance) to all who read this. ============================================== 4. Hemoglobin Structure Dear Hum-molgen subscribers, I have a doubt about the composition of the haemoglobin molecule in some special circumstances. 1.- Individual with heterozygous status for Haemoglobin A and Haemoglobin S (Sickle cell trait). As we known, the haemoglobin molecule is made up of 2 alpha chains plus 2 beta chains. In the case referred to above, is it possible to find hemoglobin molecules constructed of 2 alpha chains plus 1 normal-beta chain and 1 mutant(S)-beta chain, or must the haemoglobin molecules in those individuals be constructed of 2 alpha chains plus 2 normal-beta chains, and 2 alpha chains and 2 mutant(S)-beta chains? 2.- Foetal haemoglobin is made up of 2 alpha chains and two gamma chains. As we know, there are two gamma chains in each chromosome 11; they code for gamma chains differing in the aminoacid #136: glycine versus alanine. The question is: Can we find foetal haemoglobin molecules composed of 2 alpha chains plus 1 gamma-G chain and 1 gamma-A chain, or must foetal haemoglobin molecules be constructed of 2 alpha chains plus 2 gamma-G chains, and 2 alpha chains plus 2 gamma-A chains? Sorry to bother you with this, but any help would be welcomed. Thanks in advance. ============================================================= Jose Martin Tel. +34 1 3978206 gpepe@uam.es Fax +34 1 3978344 Dpto. de Biologia (Unidad de Genetica) Edificio de Biologia (A-207), Universidad Autonoma 28049 Madrid - Spain ============================================================