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http://purl.uniprot.org/citations/20805371http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/20805371http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/20805371http://www.w3.org/2000/01/rdf-schema#comment"

Background

Cone-rod dystrophy is a retinal dystrophy with early loss of cone photoreceptors and a parallel or subsequent loss of rod photoreceptors. It may be syndromic, but most forms are non-syndromic with autosomal dominant, autosomal recessive or X-linked recessive inheritance.

Methods and results

We identified a small consanguineous family with six patients with cone-rod dystrophy from the Faroe Islands. Homozygosity mapping revealed a single homozygous locus of 4.2 Mb on chromosome 10q23.1-q23.2, encompassing 11 genes. All patients were homozygous for a 1-bp duplication in PCDH21, c.524dupA, which results in a frameshift and a premature stop codon (p.Q175QfsX47).

Conclusion

To our knowledge, this is the first report of mutations in PCDH21 as a cause of human disease. PCDH21 is highly expressed in the retinal photoreceptor cells. It encodes protocadherin 21, which belongs to the cadherin superfamily of large cell surface proteins characterised by a variable number of extracellular cadherin domains. A PCDH21 knockout mouse model has previously shown loss of photoreceptor cells and abnormal cone and rod function, similar to the findings in the patients."xsd:string
http://purl.uniprot.org/citations/20805371http://purl.org/dc/terms/identifier"doi:10.1136/jmg.2009.069120"xsd:string
http://purl.uniprot.org/citations/20805371http://purl.org/dc/terms/identifier"doi:10.1136/jmg.2009.069120"xsd:string
http://purl.uniprot.org/citations/20805371http://purl.uniprot.org/core/author"Duno M."xsd:string
http://purl.uniprot.org/citations/20805371http://purl.uniprot.org/core/author"Duno M."xsd:string
http://purl.uniprot.org/citations/20805371http://purl.uniprot.org/core/author"Rosenberg T."xsd:string
http://purl.uniprot.org/citations/20805371http://purl.uniprot.org/core/author"Rosenberg T."xsd:string
http://purl.uniprot.org/citations/20805371http://purl.uniprot.org/core/author"Batbayli M."xsd:string
http://purl.uniprot.org/citations/20805371http://purl.uniprot.org/core/author"Batbayli M."xsd:string
http://purl.uniprot.org/citations/20805371http://purl.uniprot.org/core/author"Ostergaard E."xsd:string
http://purl.uniprot.org/citations/20805371http://purl.uniprot.org/core/author"Ostergaard E."xsd:string
http://purl.uniprot.org/citations/20805371http://purl.uniprot.org/core/author"Vilhelmsen K."xsd:string
http://purl.uniprot.org/citations/20805371http://purl.uniprot.org/core/author"Vilhelmsen K."xsd:string
http://purl.uniprot.org/citations/20805371http://purl.uniprot.org/core/date"2010"xsd:gYear
http://purl.uniprot.org/citations/20805371http://purl.uniprot.org/core/date"2010"xsd:gYear
http://purl.uniprot.org/citations/20805371http://purl.uniprot.org/core/name"J. Med. Genet."xsd:string
http://purl.uniprot.org/citations/20805371http://purl.uniprot.org/core/name"J. Med. Genet."xsd:string
http://purl.uniprot.org/citations/20805371http://purl.uniprot.org/core/pages"665-669"xsd:string
http://purl.uniprot.org/citations/20805371http://purl.uniprot.org/core/pages"665-669"xsd:string
http://purl.uniprot.org/citations/20805371http://purl.uniprot.org/core/title"Mutations in PCDH21 cause autosomal recessive cone-rod dystrophy."xsd:string
http://purl.uniprot.org/citations/20805371http://purl.uniprot.org/core/title"Mutations in PCDH21 cause autosomal recessive cone-rod dystrophy."xsd:string
http://purl.uniprot.org/citations/20805371http://purl.uniprot.org/core/volume"47"xsd:string
http://purl.uniprot.org/citations/20805371http://purl.uniprot.org/core/volume"47"xsd:string
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