Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1F

Authors
Ahmed, ZM Riazuddin, S Bernstein, SL Ahmed, Z Khan, S Griffith, AJ Morell, RJ Friedman, TB Riazuddin, S Wilcox, ER
Citation
Zm. Ahmed et al., Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1F, AM J HU GEN, 69(1), 2001, pp. 25-34
Citations number
52
Categorie Soggetti
Research/Laboratory Medicine & Medical Tecnology","Molecular Biology & Genetics
Journal title
AMERICAN JOURNAL OF HUMAN GENETICS
ISSN journal
00029297 → ACNP
Volume
69
Issue
1
Year of publication
2001
Pages
25 - 34
Database
ISI
SICI code
0002-9297(200107)69:1<25:MOTPGP>2.0.ZU;2-#
Abstract
Human chromosome 10q21-22 harbors USH1F in a region of conserved synteny to mouse chromosome 10. This region of mouse chromosome 10 contains Pcdh15, e ncoding a protocadherin gene that is mutated in ames waltzer and causes dea fness and vestibular dysfunction. Here we report two mutations of protocadh erin 15 (PCDH15) found in two families segregating Usher syndrome type 1F. A Northern blot probed with the PCDH15 cytoplasmic domain showed expression in the retina, consistent with its pathogenetic role in the retinitis pigm entosa associated with USH1F.