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Usher Syndrome Panel

Usher syndrome (type I, II, III) is mainly characterized by hearing loss and retinitis pigmentosa, and in some cases presents vestibular dysfunction with balance affectation. It is inherited following an autosomal recessive inheritance pattern. Depending on the age of onset and the severity of the clinical features three types of Usher syndrome have been reported. Its prevalence is 1: 30,000 individuals. The most common form is Usher type II (60% of cases), and the major causing gene is USH2A. The DBGen Usher Syndrome Panel analyzes 21 genes and 6 deep intronic mutations causing the pathology.

Main Pathologies


The panel includes the genes most often responsible for the following disorders:

  • Usher Syndrome


Panel type and genes analyzed


SMALL

Sequencing of all coding and splice regions, comprising at least 20 nucleotides of the intron regions flanking the exon-intron boundaries.

ABHD12, ADGRV1, ARSG, CDH23, CEP78, CEP250, CIB2, CLRN1, DFNB31, ESPN, HARS1, MYO7A, PCDH15, PDZD7, PEX1, PEX6, PRPS1, TUBB4B, USH1C, USH1G, USH2A

NGS sequencing of reported mutations in non-coding regions:

CLRN1 c.254-649T>G; USH2A c.-259G>T, c.5573-834A>G, c.7595-2144A>G, c.8845+628C>T, c.9959-4159A>G

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