Absence of cornea verticillata in hemizygotes of a novel mutation in fabry disease

Cornea
Valentín HuervaJordi Yagüe

Abstract

To report a new pedigree of Fabry disease that does not display corneal involvement in hemizygotes. A 44-year-old man presented with proteinuria, chronic obstructive airway disease, hypoacusia, teleangiectasis, and hypohidrosis. A kidney biopsy, genetic study, and ophthalmological examination were conducted. The patient's 66-year-old mother and 45-year-old sister were also investigated. Glomerular changes associated with Fabry disease were found. The diagnosis was confirmed by genetic study of the alpha-galactosidase A gene. In exon 2, an adenine was changed to a guanine at codon 92. This mutation is called D92G or Asp92Gly. This mutation has not been reported previously. Systemic examination showed cardiac involvement and chronic obstructive airway disease in the mother of the patient. The same mutation was present in the mother and in the sister of the patient. Cornea verticillata was not present in the hemizygous male. The mother and the sister of the patient showed the features of cornea verticillata. The patient and his mother were treated with enzyme replacement therapy using recombinant alpha-galactosidase A. We report here a new mutation in Fabry disease. The hemizygote did not show corneal manifestations as opposed to ...Continue Reading

References

Jul 18, 2003·Ophthalmic Genetics·Christophe OrssaudDominique Germain
Mar 16, 2005·Journal français d'ophtalmologie·L Fumex-BoizardP Denis
Mar 28, 2006·American Journal of Ophthalmology·Leonardo MastropasquaMarco Ciancaglini
Sep 16, 2006·The British Journal of Ophthalmology·Andrea SodiSuzanne Pitz
Jan 17, 2007·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Raymond Y WangWilliam R Wilcox

❮ Previous
Next ❯

Citations

Apr 20, 2011·Current Eye Research·William C StewartLindsay A Nelson

❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.