Mutations in the novel protocadherin PCDH15 cause Usher syndrome type 1F

Kumar N Alagramam; Huijun Yuan; Markus H Kuehn; C L Murcia; Sigrid Wayne; C R Srikumari Srisailpathy; R. Brian Lowry; Russell Knaus; Lut Van Laer; F P Bernier; Stuart  Schwartz; Charles Lee; Cynthia C Morton; Robert F Mullins; Arabandi Ramesh; Guy Van Camp; Gregory S Hageman; Richard P Woychik; Richard J H Smith

doi:10.1093/hmg/10.16.1709

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Mutations in the novel protocadherin PCDH15 cause Usher syndrome type 1F

Journal article

Open access

Peer reviewed

Mutations in the novel protocadherin PCDH15 cause Usher syndrome type 1F

Kumar N Alagramam, Huijun Yuan, Markus H Kuehn, C L Murcia, Sigrid Wayne, C R Srikumari Srisailpathy, R. Brian Lowry, Russell Knaus, Lut Van Laer, F P Bernier, …

Human molecular genetics, Vol.10(16), pp.1709-1718

08/01/2001

DOI: 10.1093/hmg/10.16.1709

PMID: 11487575

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Abstract

We have determined the molecular basis for Usher syndrome type 1F (USH1F) in two families segregating for this type of syndromic deafness. By fluorescence in situ hybridization, we placed the human homolog of the mouse protocadherin Pcdh15 in the linkage interval defined by the USH1F locus. We determined the genomic structure of this novel protocadherin, and found a single-base deletion in exon 10 in one USH1F family and a nonsense mutation in exon 2 in the second. Consistent with the phenotypes observed in these families, we demonstrated expression of PCDH15 in the retina and cochlea by RT-PCR and immunohistochemistry. This report shows that protocadherins are essential for maintenance of normal retinal and cochlear function.

Fetus

Mutation

Deafness - genetics

Protein Precursors - analysis

Humans

Molecular Sequence Data

Male

Gene Expression Profiling

Retina - embryology

Polymorphism, Single-Stranded Conformational

Cochlea - chemistry

DNA Mutational Analysis

Adult

Female

Cadherins - genetics

Genetic Linkage

Amino Acid Sequence

Protein Precursors - genetics

Cadherins - analysis

In Situ Hybridization, Fluorescence

Reverse Transcriptase Polymerase Chain Reaction

Blotting, Western

Retina - chemistry

Syndrome

Sequence Homology, Amino Acid

Blotting, Northern

Animals

Pedigree

Mice

Details

Title: Subtitle: Mutations in the novel protocadherin PCDH15 cause Usher syndrome type 1F
Creators: Kumar N Alagramam - Department of Pediatrics, Rainbow Babies and Children's Hospital, University Hospitals of Cleveland, Case Western Reserve University, Cleveland, OH, USA
Huijun Yuan
Markus H Kuehn
C L Murcia
Sigrid Wayne
C R Srikumari Srisailpathy
R. Brian Lowry
Russell Knaus
Lut Van Laer
F P Bernier
Stuart Schwartz
Charles Lee - Harvard Medical School
Cynthia C Morton
Robert F Mullins
Arabandi Ramesh
Guy Van Camp
Gregory S Hageman
Richard P Woychik
Richard J H Smith
Resource Type: Journal article
Publication Details: Human molecular genetics, Vol.10(16), pp.1709-1718
DOI: 10.1093/hmg/10.16.1709
PMID: 11487575
NLM abbreviation: Hum Mol Genet
ISSN: 0964-6906
eISSN: 1460-2083
Publisher: England
Grant note: HD07104 / NICHD NIH HHS R01-DC02842 / NIDCD NIH HHS EY11515 / NEI NIH HHS R01-DC03420 / NIDCD NIH HHS
Language: English
Date published: 08/01/2001
Academic Unit: Roy J. Carver Department of Biomedical Engineering; Molecular Physiology and Biophysics; Anatomy and Cell Biology; Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Otolaryngology; Internal Medicine; Ophthalmology and Visual Sciences
Record Identifier: 9983980389402771

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