Work

Pathogenic Deep Intronic Variant in CNGB3 Identified From Whole‐Genome Sequencing in an Unsolved Case of Patient Affected With Achromatopsia

Year: 2025

Type: article

Abstract: Achromatopsia (ACHM) (MIM: 262300) is an autosomal recessive disorder characterized by reduced visual acuity and color blindness. In this report, we review the case of a 14‐year‐old male patient diagnosed with achromatopsia with a history of retinal dystrophy, cone dysfunction with normal dark‐adapted response on ERG, congenital nystagmus, farsightedness, and astigmatism. The diagnostic exome sequencing previously revealed a single maternally inherited pathogenic CNGB3 variant (c.1148delC, p.(T383lfs∗13). Following enrollment in the Undiagnosed Rare Disease Clinic (URDC) at Indiana University School of Medicine (IUSM), genome sequencing (GS) identified a second CNGB3 known variant c.1663‐1205G > A p.(Gly555Leufs∗33), which was classified as likely pathogenic. Identification of this variant in the patient provided the evidence needed for a molecular diagnosis and ended a 15‐year diagnostic odyssey for the patient and his family. With a diagnosis, the patient is eligible for gene therapy and qualifies for the state‐run Vocational Rehabilitation Program and bioptic driving.

Source: Case Reports in Genetics

DOI: 10.1155/crig/3466358

Authors: Matthew R. Gregory, Khurram Liaqat, Kayla Treat, Kathryn M. Haider, Francesco Vetrini, Erin Conboy

Institutions: Riley Hospital for Children, Indiana University School of Medicine, Indiana University Indianapolis

Language: English

Topic: Retinal Development and Disorders

Subfield: Molecular Biology

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $790