Granular corneal dystrophy type II
Encyclopedia
Granular corneal dystrophy type II (CGD2), also called Avellino corneal dystrophy (ACD) or combined granular-lattice corneal dystrophy, is a rare form of human corneal dystrophy
. It is caused by mutations in the TGFBI
gene encoding the protein keratoepithelin, and is inherited in an autosomal
dominant pattern. The disorder was first described by Folberg et al. in 1988. The name Avellino corneal dystrophy comes from the first four patients in the original study each tracing their family origin to the Italian province of Avellino
.
CGD2 is caused by a mutation in the TGFBI gene, located on chromosome
5q31. The disorder is inherited in an autosomal dominant manner. This indicates that the defective gene responsible for the disorder is located on an autosome
(chromosome 5 is an autosome), and only one copy of the gene is sufficient to cause the disorder, when inherited from a parent who has the disorder.
Corneal dystrophy (human)
Human corneal dystrophy is a group of disorders, characterised by a noninflammatory, inherited, bilateral opacity of the transparent front part of the human eye called the cornea...
. It is caused by mutations in the TGFBI
TGFBI
Transforming growth factor, beta-induced, 68kDa, also known as TGFBI , is a protein which in humans is encoded by the TGFBI gene.- Function :...
gene encoding the protein keratoepithelin, and is inherited in an autosomal
Autosome
An autosome is a chromosome that is not a sex chromosome, or allosome; that is to say, there is an equal number of copies of the chromosome in males and females. For example, in humans, there are 22 pairs of autosomes. In addition to autosomes, there are sex chromosomes, to be specific: X and Y...
dominant pattern. The disorder was first described by Folberg et al. in 1988. The name Avellino corneal dystrophy comes from the first four patients in the original study each tracing their family origin to the Italian province of Avellino
Avellino
Avellino is a town and comune, capital of the province of Avellino in the Campania region of southern Italy. It is situated in a plain surrounded by mountains 42 km north-east of Naples and is an important hub on the road from Salerno to Benevento.-History:Before the Roman conquest, the...
.
Genetics
Chromosome
A chromosome is an organized structure of DNA and protein found in cells. It is a single piece of coiled DNA containing many genes, regulatory elements and other nucleotide sequences. Chromosomes also contain DNA-bound proteins, which serve to package the DNA and control its functions.Chromosomes...
5q31. The disorder is inherited in an autosomal dominant manner. This indicates that the defective gene responsible for the disorder is located on an autosome
Autosome
An autosome is a chromosome that is not a sex chromosome, or allosome; that is to say, there is an equal number of copies of the chromosome in males and females. For example, in humans, there are 22 pairs of autosomes. In addition to autosomes, there are sex chromosomes, to be specific: X and Y...
(chromosome 5 is an autosome), and only one copy of the gene is sufficient to cause the disorder, when inherited from a parent who has the disorder.