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Author Topic:   multiple genetic disorders in one individual
posted 03-29-2005 04:37 PM     Click Here to See the Profile for froskp   Click Here to Email froskp     Edit/Delete Message Reply w/Quote
Is anyone aware of a published case of an individual with more than one genetic disorder caused by mutations at different loci (not a cytogenetic abnormality such as a contiguous gene deletion)? This is a rather difficult search in Pubmed and I have been unable to find any cases, not even in inbred populations. The closest I have come is the potential triallelic inheritance of BBS, but there is no hard evidence that the third allele is even contributing to the phenotype. It stands to reason that there will be rare cases in which two distinct disorders may manifest in one individual particularly with respect to autosomal recessives with a high carrier frequency (CF, Hemochromatosis, etc.). Any help or ideas would be greatly appreciated.

Patrick Frosk
Department of Biochemistry and Medical Genetics
University of Manitoba
770 Bannatyne Ave
Winnipeg, Mb, Canada R3E 0W3
Ph: (204)789-3231
Fax: (204)789-3900


Robert Maiwald
posted 04-14-2005 10:00 AM     Click Here to See the Profile for Robert Maiwald     Edit/Delete Message Reply w/Quote
In 2002, I published a patient with Rett syndrome in ‘Neurogenetics’, who has a MECP2 mutation and also a SRY translocation to the X chromosome (karyotype 46,XX). There are other reports of Klinefelter patients with Rett syndrome as well. I believe, the list will be rather long…

So long,
Robert Maiwald (maiwald@maiwald-genetik.de)


Janice S. Boecker
posted 12-05-2006 08:53 PM     Click Here to See the Profile for Janice S. Boecker   Click Here to Email Janice S. Boecker     Edit/Delete Message Reply w/Quote
Perhaps this may be of some help?

Program Nr: 2413
Co-incidence of PKU and propionic acidemia in an Amish girl. S.E. McCandless1,3, J.W. McConnell2, D.S. Kerr2. 1) Dept of Pediatrics, Univ of North Carolina; 2) Rainbow Babies and Children's Hosp, and; 3) Dept of Genetics, Univ Hospitals of Cleveland/Case Western Reserve Univ.

Propionic acidemia (PA) was recently diagnosed in an Amish female infant in whom PKU had been diagnosed by routine newborn screening (initial phe concentration 38 mg/dl). In addition to products of phe metabolism, methylcitrate and tiglylglycine were unexpectedly found in the urine organic acid analysis. Plasma and urine contained large amounts of propionylcarnitine. Enzyme analysis (fibroblasts) demonstrated very low propionyl-CoA carboxylase activity with normal activity of pyruvate and methylcrotonyl-CoA carboxylases. Urine pteridines were normal, as were serum biotinidase and RBC dihydropteridine reductase activities. At age 2 months, prior to treatment, she developed vomiting, decreased appetite and irritability, with metabolic acidosis and hyperammonemia (155mM). •• Management required combining two different amino-acid restricted formulas and oral carnitine (50 mg/kg/day). With treatment, phe was typically 2-6 mg/dl. At 6 months of age growth and development were normal. During this time of rapid growth the combination of the 2 formulas has met her requirements for essential amino acids without causing significant accumulation of phe or metabolites of propionyl-CoA. ••• There were several individuals with PKU on both sides of the family, but no recognized cases of PA nor consanguinity in the 4-generation pedigree. A 2-year-old sister of the proband with hypotonia and global developmental delay was tested and found to have PA but not PKU. That child had no episodes of serious illness, coma, blood dyscrasias or acidosis. •••• We are not aware of previous reports of co-incidence of these two rare metabolic diseases. This case alerts physicians to the possibility that rare genetic disorders may co-exist in a member of an in-bred group. The use of broader confirmatory testing enabled subclinical detection of PA in this case, and raises awareness of the usefulness of broader newborn screening, particularly in in-bred populations. The combined restriction of phe and propiogenic amino acids has been workable and effective, resulting in normal growth and development to date.

Janice S. Boecker
Research Director
Propionic Acidemia Research Network (PARnet)
jsboecker@paresearch.org www.paresearch.org

[This message has been edited by Janice S. Boecker (edited 12-05-2006).]


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