LETTER TO JMG

Genetic homogeneity and phenotypic variability among Ashkenazi Jews with Usher syndrome type III

S L Ness¹, T Ben-Yosef², A Bar-Lev¹, A C Madeo³, C C Brewer³, K B Avraham⁴, R Kornreich¹, R J Desnick¹, J P Willner¹, T B Friedman², A J Griffith^3,5

¹ Department of Human Genetics, Mount Sinai School of Medicine, New York City, NY, USA
² Section on Human Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MD, USA
³ Hearing Section, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MD, USA
⁴ Department of Human Genetics and Molecular Medicine, Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel
⁵ Section on Gene Structure and Function, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MD, USA

Correspondence to:
Correspondence to:
Dr A J Griffith
NIDCD/NIH, 5 Research Court, Room 2A01, Rockville, MD 20850, USA; griffita@nidcd.nih.gov

Keywords: Usher syndrome; Ashkenazi Jews; deafness; hearing; retinitis pigmentosa

Abbreviations: RP, retinitis pigmentosa; USH, Usher syndrome

The first 150 words of the full text of this article appear below.

Usher syndrome (USH) is an autosomal recessive disorder comprising of bilateral sensorineural hearing loss, progressive loss of vision due to retinitis pigmentosa (RP), and variable vestibular dysfunction. It is the most frequent cause of deafness and concurrent blindness in schools for the deaf-blind,¹with a prevalence of 1/16 000 to 1/50 000 in various populations.²The majority of Usher syndrome cases can be clinically classified into three subtypes.^3,4USH type I (USH1; OMIM 276900, 276903, 276904, 601067, 602097, 602083 and 606943) is characterised by profound prelingual sensorineural hearing loss, vestibular areflexia, and prepubertal onset of RP. USH type II (USH2; OMIM 276901, 276905 and 605472) is characterised by moderate to severe hearing impairment, no vestibular impairment, and onset of RP in the first or second decade of life. USH type III (USH3; OMIM 276902) is characterised by progressive, post-lingual hearing loss, variable onset and severity of RP, with or without . . . [Full text of this article]

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