CEP164 gene

• Overview
• LCA/EOSRD
• Additional information
• References

Overview

Gene (OMIM No.)	CEP164 (#614845)
Function of gene/protein	Protein: Centrosomal protein 164 Microtubule organization and maintenance for the formation of primary cilia Mediates cell mitosis at the G2/M checkpoint and chromosomal segregation to maintain genomic stability Involved in the excision repair pathway to remove UV-induced aberrant DNA structures Loss of gene function results in the impairment of DNA damage response signaling
Clinical phenotype (OMIM phenotype no.)	Syndromic LCA/EOSRD: Nephronophthisis 15 (#614848)
Inheritance	Autosomal recessive
Signs for LCA/EOSRD	Early onset visual impairment Nystagmus Vascular attenuation Diffuse RPE atrophy Hypermetropic discs
Visual function	Severe visual dysfunction in the 1st decade; some may be certified blind as early as 5 months old
Systemic features	Cystic kidney disease (nephrophthisis) leading to renal failure in childhood or adolescence Neurological (cerebellar vermis hypoplasia, seizures) Bronchiectasis Obesity Polydactyly Developmental delays Learning difficulties
Key investigations	ERG: absent responses FAF and OCT to assess status of the outer retinal layers and RPE Renal ultrasound Systemic assessment with a paediatrican and other relevant specialists
Molecular diagnosis	Next generation sequencing Targeted gene panels (retinal) Whole exome sequencing Whole genome sequencing
Management	Ocular Management of LCA/EOSRD Systemic Multidisciplinary approach
Therapies under research	None at present
Further information	OMIM

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Additional information

A degree of genotype-phenotype relationship was suggested by Chaki et al whereby null mutations are associated with more severe ciliopathy phenotypes such as Meckel syndrome (nephronophthisis, occipital encephalocele and liver fibrosis) and Joubert syndrome (cerebellar vermis hypoplasia leading to ataxia, ocular apraxia, breathing difficulties and psychomotor delay; may be associated with LCA and/or nephronophthisis), while hypomorphic alleles are associated with milder phenotypes such as nephronophthisis and Senior-Loken syndrome (nephronophthisis with LCA).^[6]

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References

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