Table 7.

Usher Syndrome Type I: Notable Pathogenic Variants by Gene

Gene 1Reference SequencesDNA Nucleotide ChangePredicted Protein ChangeComment [Reference]
CIB2 NM_006383​.3
NP_006374​.1 		c.192G>Cp.Glu64AspVariant found in 1 Pakistani family [Riazuddin et al 2012]
PCDH15 NM_033056​.3
NP_149045​.3 		c.733C>Tp.Arg245TerAshkenazi Jewish founder variant [Ben-Yosef et al 2003]
USH1C NM_005709​.3
NP_005700​.2 		c.216G>ASee footnote 2.Acadian founder variant [Ouyang et al 2002, Lentz et al 2005]
NM_005709​.3 c.238dupC--Common variant found across populations [Bitner-Glindzicz et al 2000, Verpy et al 2000, Zwaenepoel et al 2001, Ahmed et al 2002, Blaydon et al 2003, Ouyang et al 2003]
c.1220delG--Causes RP w/late-onset high-frequency HL [Khateb et al 2012]

HL = hearing loss; RP = retinitis pigmentosa

Variants listed in the table have been provided by the authors. GeneReviews staff have not independently verified the classification of variants.

GeneReviews follows the standard naming conventions of the Human Genome Variation Society (varnomen​.hgvs.org). See Quick Reference for an explanation of nomenclature.

1.

Genes from Table 1 in alphabetic order.

2.

Although this variant is predicted to result in a p.Val72Glu missense change, it is known to cause abnormal splicing.

From: Usher Syndrome Type I

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