Title |
Screening for duplications, deletions and a common intronic mutation detects 35% of second mutations in patients with USH2A monoallelic mutations on Sanger sequencing
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Published in |
Orphanet Journal of Rare Diseases, August 2013
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DOI | 10.1186/1750-1172-8-122 |
Pubmed ID | |
Authors |
Heather B Steele-Stallard, Polona Le Quesne Stabej, Eva Lenassi, Linda M Luxon, Mireille Claustres, Anne-Francoise Roux, Andrew R Webster, Maria Bitner-Glindzicz |
Abstract |
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 mutations across nine Usher genes. The purpose of this study was to improve the molecular diagnosis in these families by screening USH2A for duplications, heterozygous deletions and a common pathogenic deep intronic variant USH2A: c.7595-2144A>G. |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Unknown | 64 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Student > Master | 9 | 14% |
Researcher | 9 | 14% |
Student > Ph. D. Student | 8 | 13% |
Student > Postgraduate | 7 | 11% |
Student > Bachelor | 5 | 8% |
Other | 10 | 16% |
Unknown | 16 | 25% |
Readers by discipline | Count | As % |
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Medicine and Dentistry | 10 | 16% |
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Social Sciences | 1 | 2% |
Other | 1 | 2% |
Unknown | 17 | 27% |