Mutations in PCDH21 cause autosomal recessive cone-rod dystrophy.

ABSTRACT:

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 dis

SUBMITTER: Ostergaard E 

PROVIDER: S-EPMC2976051 | biostudies-literature | 2010 Oct

REPOSITORIES: biostudies-literature