Posts Categorized: Part 30: MULTISYSTEM INBORN ERRORS OF DEVELOPMENT



ERT and adult Pompe disease outcome

Posted by & filed under Part 30: MULTISYSTEM INBORN ERRORS OF DEVELOPMENT, Treatment.

Regnery et al (2012) performed an open-label observational study of alglucosidase alfa enzyme replacement therapy (ERT) in 38 adult patients with GSD2. The patients first presented with the disease at a mean age of 36.2 ± 10.5 years but ERT treatment was only started after  14.5 ± 7.2 years (mean delay). This study demonstrates a variable course of neuromuscular deficits during […]



Involvement of Bardet-Biedl proteins in neural crest cell migration

Posted by & filed under Part 30: MULTISYSTEM INBORN ERRORS OF DEVELOPMENT.

Proc Natl Acad Sci U S A. 2008 Apr 28 [Epub ahead of print] Inhibition of neural crest migration underlies craniofacial dysmorphology and Hirschsprung’s disease in Bardet-Biedl syndrome. Tobin JL, Di Franco M, Eichers E, May-Simera H, Garcia M, Yan J, Quinlan R, Justice MJ, Hennekam RC, Briscoe J, Tada M, Mayor R, Burns AJ, […]



Posted by & filed under Part 10: DISORDERS OF MITOCHONDRIAL FUNCTION, Part 28: NEUROGENETICS, Part 30: MULTISYSTEM INBORN ERRORS OF DEVELOPMENT, _.

A group led by Orly Elpeleg has identified a gene associated with pontocerebellar hypoplasia, a heterogenous group of conditions. Deleterious Mutation in the Mitochondrial ArginylTransfer RNA Synthetase Gene Is Associated with Pontocerebellar Hypoplasia Simon Edvardson, Avraham Shaag, Olga Kolesnikova, John Moshe Gomori, Ivan Tarassov, Tom Einbinder, Ann Saada, and Orly Elpeleg The American Journal of […]



The human disease network

Posted by & filed under Part 02: PERSPECTIVES, Part 03: GENERAL THEMES, Part 30: MULTISYSTEM INBORN ERRORS OF DEVELOPMENT, Tools.

Combining the efforts of great minds in the field of network science and medical genetics, this paper describes the diseasome, an integrated network of genetic disorders. See figure 13 for a great overview of some allelic conditions. Goh KI, Cusick ME, Valle D, Childs B, Vidal M, Barabasi AL. The human disease network. Proc Natl […]



Microdeletion 17q21.31 syndrome

Posted by & filed under Part 05: CHROMOSOMES, Part 30: MULTISYSTEM INBORN ERRORS OF DEVELOPMENT.

In the September 2006 issue of Nature Genetics, three groups identify a new microdeletion syndrome (microdeletion 17q21.31). The major clinical features of this syndrome are severe hypotonia and moderate mental retardation See the News and Views article by James R. Lupski: Nat Genet. 2006 Sep;38(9):974-6. Genome structural variation and sporadic disease traits. Lupski JR. James […]



Syndroc

Posted by & filed under Part 30: MULTISYSTEM INBORN ERRORS OF DEVELOPMENT, Websites.

Syndroc is a searchable online database describing frequent dysmorphic syndromes. It was designed by Daniel F. Schorderet. It can be a useful adjunct to OMIM, Possum, and the  Winter-Baraitser Dysmorphology Database. Thank you very much in advance for your contributions to this blog (Click on login to register and post a message). Philippe Campeau, MD […]



New Bardet-Biedl syndrome gene

Posted by & filed under Part 29: EYE, Part 30: MULTISYSTEM INBORN ERRORS OF DEVELOPMENT.

Nat Genet. 2006 May;38(5):521-4. Epub 2006 Apr 2. BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus. Stoetzel C. et al. This french group identified a new gene mutated in up to 20% of the patients with Bardet-Biedl syndrome. For information on retinitis pigmentosa which affects patients with Bardet-Biedl syndrome, please see […]



Abase: Anthropometry on handheld computers

Posted by & filed under Part 22: CONNECTIVE TISSUE, Part 30: MULTISYSTEM INBORN ERRORS OF DEVELOPMENT.

This free powerful tool for handheld computers (PDAs), devised by Andreas Zankl, permits you to plot anthropometric data on your hand held (height, weight, head circumference, eyes, ears, nose, mouth, chest, hands, feet). It compares your values to accepted reference values for USA, Canada, UK or Switzerland. The results are displayed in centiles, standard deviations […]