PMID: 3746831Aug 1, 1986Paper

Genetic heterogeneity in Gaucher disease

Journal of Medical Genetics
J ZlotogoraT Cohen

Abstract

Considerable clinical variability occurs in adult Gaucher disease type I and three main subtypes may be delineated: a very mild form, a severe form, and a moderate form which itself presents various clinical manifestations. A study based on 25 families from our clinic and a review of published reports showed that when both parents were heterozygous and more than one child was affected with Gaucher disease type I, there was always intrafamilial similarity concerning the three subtypes. In families where one parent and at least one child were affected, variability in the clinical subtype of Gaucher disease type I might occur among the affected members of the family. We propose that the three different clinical subtypes of this disease reflect the genetic heterogeneity of two alleles, G1a and G1b and the three corresponding genotypes represent the three different subtypes of the disease.

References

Jun 6, 1977·JAMA : the Journal of the American Medical Association·E Beutler
Mar 13, 1971·British Medical Journal·U Sood, J Fielding
Jun 1, 1958·American Journal of Obstetrics and Gynecology·H M RADMAN
Jul 23, 1959·The New England Journal of Medicine·D Y Y HSIAJ A BIGLER
Nov 1, 1959·The Journal of Pediatrics·J BERNSTEIN, W E SHELDEN
Mar 1, 1951·A.M.A. Archives of Internal Medicine·M KRIML M MEYER
Nov 1, 1949·American Journal of Diseases of Children·E STRANSKY, D F DAUIS-LAWAS
Mar 1, 1950·The American Journal of Medicine·G L GORDON

❮ Previous
Next ❯

Citations

Dec 16, 1991·Clinica Chimica Acta; International Journal of Clinical Chemistry·J M AertsA Tsiapara
Jun 15, 2006·European Journal of Human Genetics : EJHG·Daniela Amann-ZalcensteinBernard Lerer
Jul 1, 1987·American Journal of Medical Genetics·J Zlotogora
Aug 1, 1990·American Journal of Medical Genetics·E H KolodnyM Horowitz
Jul 1, 1988·Clinical Genetics·P J WillemsJ S O'Brien

❮ 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.