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Article

Screening for duplications, deletions and a common intronic mutation detects 35% of second mutations in patients with USH2A monoallelic mutations on Sanger sequencing.

Orphanet journal of rare diseases - 8 Aug 2013

Steele-Stallard Heather B, Le Quesne Stabej Polona, Lenassi Eva, Luxon Linda M, Claustres Mireille, Roux Anne-Francoise, Webster Andrew R, Bitner-Glindzicz Maria

Abstract excerpt

BACKGROUND: Usher Syndrome is the leading cause of inherited deaf-blindness. It is divided into three subtypes, of which the most common is Usher type 2, and the USH2A gene accounts for 75-80% of cases. Despite recent sequencing strategies, in our cohort a significant proportion of individuals with Usher type 2 have just one heterozygous disease-causing mutation in USH2A, or no convincing disease-causing...

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Identifiers

PMID: 23924366
DOI: 10.1186/1750-1172-8-122
PMCID: PMC3751126

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