Phenotypic variability of Shwachman–Bodian–Diamond syndrome gene mutations

• March 31st, 2007

Mutations in the Shwachman–Bodian–Diamond syndrome gene mutations can also give rise to a neonatal for of spondylometaphysial dysplasia.

The Shwachman–Bodian–Diamond syndrome gene mutations cause a neonatal form of spondylometaphysial dysplasia (SMD) resembling SMD Sedaghatian type
Gen Nishimura, Eiji Nakashima, Yuichiro Hirose, Trevor Cole, Phillip Cox, Daniel H Cohn, David L Rimoin, Ralph S Lachman, Yoshinari Miyamoto, Bronwyn Kerr, Sheila Unger, Hirofumi Ohashi, Andrea Superti-Furga and Shiro Ikegawa
Journal of Medical Genetics 2007;44:e73; doi:10.1136/jmg.2006.043869
 

Human Variome Project

• March 31st, 2007

 
The Human Variome Project participants have met in 2006 and have established 96 recommendations for the collection and accessibility of variations in the human genomic DNA.

Nat Genet. 2007 Apr;39(4):433-6.

Recommendations of the 2006 Human Variome Project meeting.

Cotton RG; participants of the 2006 Human Variome Project meeting; Appelbe W,
Auerbach AD, Becker K, Bodmer W, Boone DJ, Boulyjenkov V, Brahmachari S, Brody
L, Brookes A, Brown AF, Byers P, Maria Cantu J, Cassiman JJ, Claustres M,
Concannon P, Cotton RG, den Dunnen JT, Flicek P, Gibbs R, Hall J, Hasler J, Katz
M, Kwok PY, Laradi S, Lindblom A, Maglott D, Marsh S, Masimirembwa CM, Minoshima
S, de Ramirez AM, Pagon R, Ramesar R, Ravine D, Richards S, Rimoin D, Ring HZ,
Scriver CR, Sherry S, Shimizu N, Stein L, Tadmouri GO, Taylor G, Watson M.

Richard G.H. Cotton is at the Genomic Disorders Research Centre, St. Vincent’s
Hospital Melbourne, 35 Victoria Parade, Melbourne, Victoria 3065, Australia. The
complete list of the authors appears at the end of the paper*.

Human Variome Project

• March 31st, 2007

 
The Human Variome Project participants have met in 2006 and have established 96 recommendations for the collection and accessibility of variations in the human genomic DNA.

Nat Genet. 2007 Apr;39(4):433-6.

Recommendations of the 2006 Human Variome Project meeting.

Cotton RG; participants of the 2006 Human Variome Project meeting; Appelbe W,
Auerbach AD, Becker K, Bodmer W, Boone DJ, Boulyjenkov V, Brahmachari S, Brody
L, Brookes A, Brown AF, Byers P, Maria Cantu J, Cassiman JJ, Claustres M,
Concannon P, Cotton RG, den Dunnen JT, Flicek P, Gibbs R, Hall J, Hasler J, Katz
M, Kwok PY, Laradi S, Lindblom A, Maglott D, Marsh S, Masimirembwa CM, Minoshima
S, de Ramirez AM, Pagon R, Ramesar R, Ravine D, Richards S, Rimoin D, Ring HZ,
Scriver CR, Sherry S, Shimizu N, Stein L, Tadmouri GO, Taylor G, Watson M.

Richard G.H. Cotton is at the Genomic Disorders Research Centre, St. Vincent’s
Hospital Melbourne, 35 Victoria Parade, Melbourne, Victoria 3065, Australia. The
complete list of the authors appears at the end of the paper*.

Testing for IEMs by NMR

• March 22nd, 2007

Anal Bioanal Chem. 2007 Jan;387(2):539-49. Epub 2006 Jul 5.

Principal component analysis of urine metabolites detected by NMR and DESI-MS in
patients with inborn errors of metabolism.

Pan Z, Gu H, Talaty N, Chen H, Shanaiah N, Hainline BE, Cooks RG, Raftery D.

This article provides further support to the idea that perhaps, in the future, we will be performing part of the screening for inborn errors of metabolism by nuclear magnetic resonance (NMR). In this article, the authors used NMR and desorption electrospray ionization mass spectrometry to succesfully identify abnormal concentrations of metabolites in samples from patients with samples from individual patients with argininosuccinic aciduria, classic homocystinuria, classic methylmalonic acidemia, maple syrup urine disease, phenylketonuria and tyrosinemia type II.

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

Metabolome project

• March 3rd, 2007

The human metabolome project is included in this great new OMMBID chapter (Chapter 3.1). The Human Metabolome Project was recently featured in Science.

 Enjoy!

Philippe Campeau