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“Schnyder Crystalline-Corneal Dystrophy”, Victor McKusick, Mendelian Inheritance in Man, 1966.



Here I present: “Schnyder Crystalline-Corneal Dystrophy”, Victor McKusick, Mendelian Inheritance in Man’, 1966.

INTRODUCTION.

Schnyder Crystalline-Corneal Dystrophy (SCCD) is a corneal dystrophy. It is caused by heterozygous mutations in UBIAD1 gene. Cells in the cornea accumulate cholesterol and phospholipid deposits leading to the opacity, in severe cases requiring corneal transplants. Abnormal  cholesterol metabolism has been noted in other cell types of affected patients (skin fibroblasts) suggesting that this may be a systemic disorder with clinical manifestations limited to the cornea.

There is evidence that Schnyder corneal dystrophy (SCCD) is caused by heterozygous mutation in the UBAID1 gene on cytogenetic location 1p36.22 and genomic coordinates 1:11,273,198-11,299,574 . The screenshot of the UBAID1 gene 26,377 bp (base pairs) of DNA sequence length is shown BELOW.  Nine (9) other genes besides UBAID1 in the 1p36.22 cytogenetic location are listed BENEATH.

 

Coordinate  Symbol  Genomic Name.
1:11,054,589  SRM Spermidine synthase-1
1:11,066,618  EXOSC10 Exosome component 10
1:11,106,535  MTOR Mechanistic target of rapamycin
1:11,189,355  ANGPTL7 Angiopoietin-like 7
1:11,273,198  UBIAD1 UbiA prenyltransferase domain protein 
1:11,479,155  DISP3 Dispatched RND transporter family, 3
1:11,648,387  FBXO2 F-box protein 2
1:11,654,407  FBXO44 F-box protein 44
1:11,664,200  FBXO6 F-box protein 6
1:11,674,480  MAD2L2 Mitotic arrest-deficient 2 like 2

 

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