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Article

Genetic and Clinical Analyses of the KIZ-c.226C>T Variant Resulting in a Dual Mutational Mechanism.

Genes - 18 Jun 2024

Sundaresan Yogapriya, Rivera Antonio, Obolensky Alexey, Gopalakrishnan Prakadeeswari, Ohayon Hadad Hanit, Shemesh Aya, Khateb Samer, Ross Maya, Ofri Ron, Durst Sharon, Newman Hadas, Leibu Rina, Soudry Shiri, Zur Dinah, Ben-Yosef Tamar, Banin Eyal, Sharon Dror

Abstract excerpt

Retinitis pigmentosa (RP) is a heterogeneous inherited retinal disorder. Mutations in KIZ cause autosomal recessive (AR) RP. We aimed to characterize the genotype, expression pattern, and phenotype in a large cohort of KIZ cases. Sanger and whole exome sequencing were used to identify the KIZ variants. Medical records were reviewed and analyzed. Thirty-one patients with biallelic KIZ mutations were identified: 28...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 38927740
DOI: 10.3390/genes15060804
PMCID: PMC11202946

Genes

KIZ
AR
DHDDS
FAM161A

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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Genetic and Clinical Analyses of the KIZ-c.226C>T Variant Resulting in a Dual Mutational Mechanism.PMID 38927740Read ↗

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