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Related Experiment Video

Updated: Jun 9, 2026

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Mutations in PCDH21 cause autosomal recessive cone-rod dystrophy.

E Ostergaard1, M Batbayli, M Duno

  • 1Department of Clinical Genetics 4062, National University Hospital Rigshospitalet, Blegdamsvej 9, Copenhagen 2100, Denmark. elsebet.ostergaard@dadlnet.dk

Journal of Medical Genetics
|September 1, 2010
PubMed
Summary

Mutations in the PCDH21 gene cause cone-rod dystrophy, a severe inherited retinal disease. This study identifies a novel mutation in PCDH21, confirming its role in photoreceptor degeneration.

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Area of Science:

  • Genetics
  • Ophthalmology
  • Molecular Biology

Background:

  • Cone-rod dystrophy (CRD) is an inherited retinal disease characterized by progressive loss of cone and rod photoreceptors.
  • CRD can be syndromic or non-syndromic, with various inheritance patterns including autosomal dominant, autosomal recessive, and X-linked recessive.

Purpose of the Study:

  • To investigate the genetic cause of cone-rod dystrophy in a consanguineous family.
  • To identify the specific gene and mutation responsible for CRD in the studied cohort.

Main Methods:

  • Homozygosity mapping was employed to identify shared homozygous regions among affected individuals.
  • Whole-exome sequencing or targeted gene sequencing was used to pinpoint causative mutations within the identified locus.
  • Genetic analysis focused on a 4.2 Mb locus on chromosome 10q23.1-q23.2.

Main Results:

  • A single homozygous locus was identified on chromosome 10q23.1-q23.2 in six patients with CRD.
  • All affected individuals were homozygous for a 1-base pair duplication (c.524dupA) in the PCDH21 gene.
  • This duplication leads to a frameshift and a premature stop codon (p.Q175QfsX47), resulting in a non-functional protocadherin 21 protein.

Conclusions:

  • This study reports, for the first time, mutations in PCDH21 as a cause of human cone-rod dystrophy.
  • PCDH21, encoding protocadherin 21, is highly expressed in photoreceptor cells and crucial for their function.
  • Findings align with a PCDH21 knockout mouse model exhibiting photoreceptor loss and dysfunction, supporting its role in CRD pathogenesis.