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“Usher Syndrome (type 2A)”, Victor McKusick, Mendelian Inheritance in Man, 1966.

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Here I present: “Usher Syndrome (type 2A)”, Victor McKusick, Mendelian Inheritance in Man’, 1966.

INTRODUCTION.

Usher Syndrome is a genetic disorder caused by a mutation in any one of at least 11 genes resulting in a combination of hearing loss and visual impairment. It is the most common cause of deafblindness and is at present incurable.

The Usherin gene encodes the protein Usherin that contains laminin EGF motifs, a pentraxin domain, and many fibronectin type III motifs. The encoded basement membrane-associated protein may be important in development and homeostasis of the inner ear and retina. Mutations within this gene have been associated with Usher syndrome type IIa.

There is evidence Usher syndrome type-IIA (USH2A) is caused by homozygous or compound heterozygous mutation in the gene encoding usherin (USH2A) on cytogenetic location 1q41 and genomic coordinates  1:215,622,891-216,423,448 . The screenshot of the USH2A gene 800,558 bp (base pairs) of DNA sequence length is shown BELOW.  Nine (9) other genes besides USH2A in the 1q41 cytogenetic location are listed BENEATH.

Coordinate  Symbol  Genomic Name.
1:214,400,001  RMD1 Rippling muscle disease 1
1:214,603,195  CENPF Centromere autoantigen F, 400kD
1:215,005,542  KCNK2 Potassium channel, subfamily K, member 2
1:215,567,304  KCTD3 Potassium channel tetramerization domain protein 3
1:215,622,891  USH2A Usherin
1:216,503,246  ESRRG Estrogen-related receptor, gamma
1:217,426,992  GPATCH2 G-patch domain-containing protein 2
1:217,631,344  SPATA17 Spermatogenesis-associated protein 17
1:218,285,293  RRP15 Ribosomal RNA-processing 15 homolog
1:218,345,336  TGFB2 Transforming growth factor, beta-2

 

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