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Article

A deep intronic substitution in CNGB3 is one of the major causes of achromatopsia among Jewish patients.

Molecular vision - 1 Jan 2021

Aweidah Hamzah, Salameh Manar, Yahalom Claudia, Blumenfeld Anat, Macarov Michal, Weisschuh Nicole, Kohl Susanne, Banin Eyal, Sharon Dror

Abstract excerpt

Purpose: Although most (or even all) genes that can cause achromatopsia (ACHM) when mutated are known, some patients are still negative for mutations even after screening the coding sequence of all known genes. Our aim was to characterize the genetic and clinical aspects of a deep intronic (c.1663-1205G>A, IVS14-1205G>A) CNGB3 variant. Methods: Clinical evaluation included visual acuity testing, refractive error,...

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PMID: 34703197
PMCID: PMC8477987

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