The Genetics of Usher Syndrome in the Israeli and Palestinian Populations

Investigative Ophthalmology & Visual Science
Ayat KhalailehSamer Khateb

Abstract

Usher syndrome (USH) is the most common cause for deaf-blindness. It is genetically and clinically heterogeneous and prevalent in populations with high consanguinity rate. We aim to characterize the set of genes and mutations that cause USH in the Israeli and Palestinian populations. Seventy-four families with USH were recruited (23 with USH type 1 [USH1], 33 with USH2, seven with USH3, four with atypical USH, and seven families with an undetermined USH type). All affected subjects underwent a full ocular evaluation. A comprehensive genetic analysis, including Sanger sequencing for the detection of founder mutations, homozygosity mapping, and whole exome sequencing in large families was performed. In 79% of the families (59 out of 74), an autosomal recessive inheritance pattern could be determined. Mutation detection analysis led to the identification of biallelic causative mutations in 51 (69%) of the families, including 21 families with mutations in USH2A, 17 in MYO7A, and seven in CLRN1. Our analysis revealed 28 mutations, 11 of which are novel (including c.802G>A, c.8558+1G>T, c.10211del, and c.14023A>T in USH2A; c.285+2T>G, c.2187+1G>T, c.3892G>A, c.5069_5070insC, c.5101C>T, and c.6196C>T in MYO7A; and c.15494del in GPR98)...Continue Reading

Citations

May 7, 2020·Ophthalmic Genetics·Rosalie M NolenWadih M Zein
Jun 27, 2019·Hormones : International Journal of Endocrinology and Metabolism·Vassos NeocleousNicos Skordis
May 1, 2021·International Journal of Molecular Sciences·Evan M de JoyaXuezhong Liu
Jul 3, 2021·Journal of Clinical Medicine·Camron DaviesAdrien A Eshraghi

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