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Article

Re‐evaluation casts doubt on the pathogenicity of homozygous USH2A p.C759F

30 Mar 2015

Abstract excerpt

Mutations in USH2A are a common cause of Retinitis Pigmentosa (RP). Among the most frequently reported USH2A variants, c.2276G>T (p.C759F) has been found in both affected and healthy individuals. The pathogenicity of this variant remains controversial since it was detected in homozygosity in two healthy siblings of a Spanish family (S23), eleven years ago. The fact that these individuals remain asymptomatic...

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PMID: 25823529
DOI: 10.1002/ajmg.a.37003

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