Journal Article

A Newly Identified Locus for Usher Syndrome Type I, <i>USH1E,</i> Maps to Chromosome 21q21

Hassan Chaïb, Josseline Kaplan, Sylvie Gerber, Christophe Vincent, Hammadi Ayadi, Rima Slim, Arnold Munnich, Jean Weissenbach and Christine Petit

in Human Molecular Genetics

Volume 6, issue 1, pages 27-31
Published in print January 1997 | ISSN: 0964-6906
Published online January 1997 | e-ISSN: 1460-2083 | DOI:
A Newly Identified Locus for Usher Syndrome Type I, USH1E, Maps to Chromosome 21q21

Show Summary Details


Usher syndrome (USH) is a clinically and genetically heterogeneous disorder characterized by congenital hearing loss combined with retinitis pigmentosa. This dual sensorineural deficiency is transmitted in an autosomal recessive mode. Usher syndrome type I (USH1) is the most severe form. Four loci responsible for USH1 (USH1A, 1B, 1C and 1D) have previously been mapped, among which only the USH1B gene has been cloned. Using homozygosity mapping in a consanguineous family from Morocco, we identified a novel locus for USH1, USH1E, mapping to chromosome band 21q21. The delimited 15 cM interval is flanked by the loci D21S1905 and D21S1913. Subsequent segregation analysis of two families affected by USH1, in which the A, B, C and D loci had been excluded, also excluded the involvement of the USH1E locus, therefore indicating the existence of at least one more locus for USH1.

Journal Article.  3159 words.  Illustrated.

Subjects: Genetics and Genomics

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