USH1G with unique retinal findings caused by a novel truncating mutation identified by genome-wide linkage analysis

Faiqa Imtiaz, Khalid Taibah, Ghada Bin-Khamis, Shelley Kennedy, Amal Hemidan, Faisal Al-Qahtani, Khalid Tabbara, Bashayer Al Mubarak, Khushnooda Ramzan, Brian F. Meyer, Mohammed Al-Owain

Research output: Contribution to journalArticlepeer-review

4 Scopus citations


Purpose: Usher syndrome (USH) is an autosomal recessive disorder divided into three distinct clinical subtypes based on the severity of the hearing loss, manifestation of vestibular dysfunction, and the age of onset of retinitis pigmentosa and visual symptoms. To date, mutations in seven different genes have been reported to cause USH type 1 (USH1), the most severe form. Patients diagnosed with USH1 are known to be ideal candidates to benefit from cochlear implantation. Methods: Genome-wide linkage analysis using Affymetrix GeneChip Human Mapping 10K arrays were performed in three cochlear implanted Saudi siblings born from a consanguineous marriage, clinically diagnosed with USH1 by comprehensive clinical, audiological, and ophthalmological examinations. From the linkage results, the USH1G gene was screened for mutations by direct sequencing of the coding exons. Results: We report the identification of a novel p.S243X truncating mutation in USH1G that segregated with the disease phenotype and was not present in 300 ethnically matched normal controls. We also report on the novel retinal findings and the outcome of cochlear implantation in the affected individuals. Conclusions: In addition to reporting a novel truncating mutation, this report expands the retinal phenotype in USH1G and presents the first report of successful cochlear implants in this disease.

Original languageEnglish (US)
Pages (from-to)1885-1894
Number of pages10
JournalMolecular Vision
StatePublished - 2012
Externally publishedYes

ASJC Scopus subject areas

  • Ophthalmology


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