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BRIEF RESEARCH REPORT article

Front. Genet.
Sec. Genetics of Common and Rare Diseases
Volume 15 - 2024 | doi: 10.3389/fgene.2024.1457569

Case report: Novel CNGA3 compound heterozygous variants cause achromatopsia in three patients from a family

Provisionally accepted

The final, formatted version of the article will be published soon.

    This study report a novel missense variant in the cyclic nucleotide-gated channel 3 (CNGA3) gene identified by targeted gene panel sequencing approach in a Chinese family with achromatopsia. The proband, a 24-year-old female, with normal intelligence, motor development and speech abilities exhibited nystagmus, amblyopia, photophobia, and indistinguishable colors. In addition, the two sisters of the proband had the same clinical symptoms, which means that three patients from a family with a monochromasia clinical diagnosis. Based on the family situation, the proband came to our hospital for facilitate genetic counseling. Genetic analysis using targeted gene panel sequencing was conducted to confirm causative variants. Compound heterozygous variants, including the novel missense c.524T>A (p.Ile175Asn) and the know missense variant c.829C>T (p.Arg277Cys), were identified in CNGA3. These variants represent the genetic defects associated with achromatopsia in this family.

    Keywords: achromatopsia, CNGA3 gene, Genetic Counseling, Genetic Testing, Novel variant

    Received: 05 Jul 2024; Accepted: 16 Oct 2024.

    Copyright: © 2024 Zhou, Zhou, Wu, Guo, Yao and Yang. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

    * Correspondence:
    Liangfeng Yao, Foshan Women and Children Hospital, Foshan, China
    Xingkun Yang, Foshan Women and Children Hospital, Foshan, China

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