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

JAK2 Exon 12 Mutations in Polycythemia Vera and Idiopathic Erythrocytosis

• February 1st, 2007

See this article for details on this description of a new mutation in JAK2 associated with a dinstinct myeloproliferative syndrome.

Philippe Campeau

• September 5th, 2006

Nat Genet. 2003 Jun;34(2):157-65.

Transcription of antisense RNA leading to gene silencing and methylation as a
novel cause of human genetic disease.

Tufarelli C, Stanley JA, Garrick D, Sharpe JA, Ayyub H, Wood WG, Higgs DR.

In this article, Tufarelli and colleagues describe a new genetic mechanism of human disease, in a patient with alpha-thalassemia. A deletion in a nearby gene, LUC7L, causes antisense mediated cis-acting methylation and silencing of the HBA2 gene.

For more information on the epigenetic silencing of genes, please see chapter 18.1

For more information on thalassemia, please see chapter 181.
Thank you very much in advance for your contributions to this blog (Click on login to register and post a message).

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

Rare bleeding disorder database

• May 10th, 2006

The primary aim of database is to determine the distribution of each rare bleeding disorder in the world, and their available treatments.

Please visit www.rbdd.org to participate in the database.

For more information on rare bleeding disorders, please visit OMMBID Part 19: Chapters 169 - 183.

Thank you very much in advance for your contributions to this blog.

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