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“Stargardt Disease”, Victor McKusick, Mendelian Inheritance in Man, 1966. 斯塔加特病。(STGD4).

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Here I present: Stargardt Disease”, Victor McKusick, Mendelian Inheritance in Man’, 1966. 斯塔加特病。(STGD4).

INTRODUCTION.

Stargardt disease  (STGD) is the most common inherited single-gene retinal disease.  

In terms of the first description of the disease, it follows an autosomal recessive pattern, which has been later linked to bi-allelic ABCA4 gene variants (STGD1). However, there are Stargardt-like diseases with mimicking phenotypes that are referred to as STGD3 and STGD4, and have an autosomal dominant pattern due to defects with ELOVL4 or PROM1 genes, respectively. It is characterized by macular degeneration that begins in childhood, adolescence or adulthood, resulting in progressive loss of vision.  

Stargardt disease (STGD) is the most common hereditary macular dystrophy and is characterized by decreased central vision, atrophy of the macula and underlying retinal pigment epithelium, and frequent presence of prominent flecks in the posterior pole of the retina.

STGD is most commonly inherited as an autosomal recessive trait, but STGD4 is inherited as an autosomal dominant trait.

There is evidence that Stargardt disease type-4 (STGD4) is caused by heterozygous mutation in the prominin type-1 gene (PROM1) on cytogenetic location 4p15.32 and genomic coordinates 4:15,968,228-16,084,023. The screenshot of the PROM1 gene 115,796 bp (base pairs) of DNA sequence length is shown BELOW. Nine (9) other genes besides PROM1 in the 4p15.32 cytogenetic location are listed BENEATH.

 





 

Coordinate  Symbol  Genomic Name
4:15,703,065  BST1 Bone marrow stromal cell antigen 1
4:15,778,328  CD38 CD38 antigen (p45)
4:15,935,577  FGFBP1 Fibroblast growth factor-binding protein 1
4:15,960,245  FGFBP2 Fibroblast growth factor-binding protein 2
4:15,968,228  PROM1  Prominin 1
4:16,160,505  TAPT1 Transmembrane anterior posterior transform 1
4:16,501,541  LDB2 LIM domain-binding factor-2
4:17,486,395  QDPR Quinoid dihydropteridine reductase
4:17,515,165  CLRN2 Clarin 2
4:17,577,198  PEPS Peptidase S

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