home   genetic news   bioinformatics   biotechnology   literature   journals   ethics   positions   events   sitemap
  HUM-MOLGEN -> Genetic News | search  

Clinical And Molecular Findings In Osteoporosis-Pseudoglioma Syndrome

  October, 19 2005 10:39
your information resource in human molecular genetics
Clinical And Molecular Findings In Osteoporosis-Pseudoglioma Syndrome

Minrong Ai, Shauna Heeger, Cynthia F. Bartels, Deborah K. Schelling, and the Osteoporosis-Pseudoglioma Collaborative Group (1)

Author Affiliations:
Department of Genetics and Center for Human Genetics, Case School of Medicine and University Hospitals of Cleveland, Cleveland

Mutations in the low-density lipoprotein receptor related protein 5 gene (LRP5) cause autosomal recessive osteoporosis-pseudoglioma syndrome (OPPG). The authors sequenced the coding exons of LRP5 in 37 probands suspected of having OPPG on the basis of the co-occurrence of severe congenital or childhood-onset visual impairment with bone fragility or osteoporosis recognized by young adulthood.

Looking for digenic inheritance, they sequenced the genes encoding the functionally related receptor LRP6, an LRP5 coreceptor FZD4, and an LRP5 ligand, NDP, in the four probands with one mutant allele, and, looking for locus heterogeneity, they sequenced FZD4 and NDP in the seven probands with no mutations, but found no additional mutations.

Comparisons were made of the clinical features between probands with and without LRP5 mutations. They also measured the ability of wild-type and mutant LRP5 to transduce Wnt and Norrin signal ex vivo.

The results indicate that early bilateral vitreoretinal eye pathology coupled with skeletal fragility is a strong predictor of LRP5 mutation and that mutations in LRP5 cause OPPG by impairing Wnt and Norrin signal transduction.

(1) The Osteoporosis-Pseudoglioma Collaborative Group includes clinicians who have cared for the patients with OPPG. The clinicians who ascertained, synthesized, and provided previously unpublished data specifically for this study are included as coauthors. Their names and affiliations are listed in the Acknowledgments.

Abstract available online.

(C) American Journal of Human Genetics.

Posted by: Tressie Dalaya

Message posted by: Trevor M. D'Souza

print this article mail this article
Latest News
Variants Associated with Pediatric Allergic Disorder

Mutations in PHF6 Found in T-Cell Leukemia

Genetic Risk Variant for Urinary Bladder Cancer

Antibody Has Therapeutic Effect on Mice with ALS

Regulating P53 Activity in Cancer Cells

Anti-RNA Therapy Counters Breast Cancer Spread

Mitochondrial DNA Diversity

The Power of RNA Sequencing

‘Pro-Ageing' Therapy for Cancer?

Niche Genetics Influence Leukaemia

Molecular Biology: Clinical Promise for RNA Interference

Chemoprevention Cocktail for Colon Cancer

more news ...

Generated by News Editor 2.0 by Kai Garlipp
WWW: Kai Garlipp, Frank S. Zollmann.
7.0 © 1995-2023 HUM-MOLGEN. All rights reserved. Liability, Copyright and Imprint.