Succinate dehydrogenase and leukoencephalopathy

• July 27th, 2009

A gene encoding a protein essential for the assembly of succinate dehydrogenase has been implicated in an infantile leukoencephalopathy.

Nat Genet. 2009 May 24. [Epub ahead of print]

SDHAF1, encoding a LYR complex-II specific assembly factor, is mutated in SDH-defective infantile leukoencephalopathy.

Ghezzi D et al.

Click this link to see the most recent online abstracts of major genetics journals.

Philippe Campeau

Mitochondrial carrier and sideroblastic anemia

• July 27th, 2009

Nat Genet. 2009 Jun;41(6):651-3. Epub 2009 May 3.

Mutations in mitochondrial carrier family gene SLC25A38 cause nonsyndromic autosomal recessive congenital sideroblastic anemia.

Guernsey DL et al.

These investigators form Nova Scotia describe a new form of sideroblastic anemia caused by a mutation in a mitochondrial carrier. The gene was identified by positional cloning.

Click this link to see the most recent online abstracts of major genetics journals.

Philippe Campeau

New cause of CoQ10 deficiency

• July 27th, 2009

Am J Hum Genet. 2009 May;84(5):558-66. Epub 2009 Apr 16.

A nonsense mutation in COQ9 causes autosomal-recessive neonatal-onset primary coenzyme Q10 deficiency: a potentially treatable form of mitochondrial disease.

Duncan AJ et al.

This group from the UK describes a new form of coQ10 deficiency, a potentially treatable condition.

Click this link to see the most recent online abstracts of major genetics journals.

Philippe Campeau

Cause of short stature in African Pygmies

• June 7th, 2009

Molecular Genetics and Metabolism
Article in Press
The shortness of Pygmies is associated with severe under-expression of the Growth Hormone Receptor
Mauro Bozzola et al.

In this article, the authors observed a markedly reduced GHR gene expression in adult Pygmies, while the genetics cause for this remains to be uncovered.

Click this link to see the most recent online abstracts of major genetics journals.

Philippe Campeau

MPS VI gene therapy pre-clinical model

• June 7th, 2009

Mol Genet Metab. 2009 Jun;97(2):102-8. Epub 2009 Feb 27.
Lentiviral-mediated correction of MPS VI cells and gene transfer to joint tissues.
Byers S, Rothe M, Lalic J, Koldej R, Anson DS.

In this publication, the authors use a lentivirus to tranduce human fibroblasts and chondrocytes, as well as the synovial membrane and the fascia in injected rat joints.

Click this link to see the most recent online abstracts of major genetics journals.

Philippe Campeau

ASHG

• June 7th, 2009

The ASHG 2009 meeting will take place on Tuesday, October 20 to Saturday, October 24, 2009 in Honolulu, Hawaii at the Hawaii Convention Center.
http://www.ashg.org/2009meeting/

See you there,

Philippe Campeau

Congenital anomalies in a patient with beta-Ureidopropionase deficiency

• February 3rd, 2008

Mol Genet Metab. 2008 Feb;93(2):190-194. Epub 2007 Oct 26.

beta-Ureidopropionase deficiency presenting with congenital anomalies of the urogenital and colorectal systems.

Yaplito-Lee J, Pitt J, Meijer J, Zoetekouw L, Meinsma R, van Kuilenburg AB.
 
In this article, the authors describe dysmorphisms associated with an inborn error of metabolism of thymine and uracil degradation. The 5 previously described patients with a deficiency of beta-ureidopropionase had neurological and neuromuscular findings only. The patient they describe has normal neurological findings, and additional malformations which could be related, or not, to the inborn error of metabolism. No congenital malformations have previously been associated with inborn errors of the metabolism of purines and pyrimidines. 
Thank you very much in advance for your contributions to this blog (Click on login to register and post a comment).

Click this link to see the most recent online abstracts of major genetics journals.
Philippe Campeau, MD
Resident in Medical Genetics at McGill University
OMMBID Blog Administrator

HuGE Navigator

• January 29th, 2008

For information on population prevalence of genetic variants, gene-disease associations, gene-gene and gene- environment interactions, and evaluation of genetic tests, please look at the HuGE Navigator (http://www.hugenavigator.net/).

 
Thank you very much in advance for your contributions to this blog (Click on login to register and post a comment).

Click this link to see the most recent online abstracts of major genetics journals.

Philippe Campeau, MD
Resident in Medical Genetics at McGill University
OMMBID Blog Administrator

Hemochromatosis penetrance

• January 16th, 2008

This week, the New England Journal of Medicine publishes a study on the penetrance of HFE hereditary hemochromatosis. 31 000 individuals were studied in Australia. There were 203 C282Y homozygotes. Of these, 28% of the males and 1% of the females developed iron-overload-related diseases.

Read more at:
Iron-Overload–Related Disease in HFE Hereditary Hemochromatosis
KJ Allen, LC Gurrin, CC Constantine, et al.
NEJM Volume 358:221-230  January 17, 2008  Number 3

Editorial by BR Bacon and BS Britton

 
Thank you very much in advance for your contributions to this blog (Click on login to register and post a comment).

Click this link to see the most recent online abstracts of major genetics journals.
Philippe Campeau, MD
Resident in Medical Genetics at McGill University
OMMBID Blog Administrator

Exon capture for genome-wide resequencing

• November 28th, 2007

In this paper, the authors describe a technique to capture human exons on arrays then sequence them by Illumina 1G sequencing. It is hoped that this technique will identify new causes of diseases.
Nat Genet. 2007 Nov 4; [Epub ahead of print]

Genome-wide in situ exon capture for selective resequencing.

Hodges E, Xuan Z, Balija V, Kramer M, Molla MN, Smith SW, Middle CM, Rodesch MJ,
Albert TJ, Hannon GJ, McCombie WR.
Thank you very much in advance for your contributions to this blog (Click on login to register and post a comment).

Click this link to see the most recent online abstracts of major genetics journals.
Philippe Campeau, MD
Resident in Medical Genetics at McGill University
OMMBID Blog Administrator

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