Analysis of the ABCA4 c.[2588G>C;5603A>T] Allele in the Australian Population

Jennifer A. Thompson, John (Pei Wen) Chiang, John N. De Roach, Terri L. McLaren, Fred K. Chen, Ling Hoffmann, Isabella Campbell, Tina M. Lamey

Research output: Chapter in Book/Conference paperChapter


Inherited retinal diseases (IRDs) are genetically and phenotypically diverse, and they cause significant morbidity worldwide. Importantly, IRDs may be amenable to precision medicine strategies, and thus the molecular characterisation of causative variants is becoming increasingly important with the promise of personalised therapies on the horizon. ABCA4, involved in the translocation of visual cycle derivatives, is a well-established, frequent cause of IRDs worldwide, with pathogenic variants implicated in phenotypically diverse diseases. Identification of causative ABCA4 variants in some individuals, however, has been enigmatic, and resolution of this issue is currently a hotbed of research. Recent evidence has indicated that hypomorphic alleles, which cause disease under certain conditions, may account for some of the missing causal variants. It has been postulated that the ABCA4 c.5603A>T (p.Asn1868Ile) variant, previously considered benign, be reclassified as hypomorphic when in cis configuration with c.2588G>C (p.Gly863Ala/Gly863del), a variant previously considered to be pathogenic in its own right. We are exploring this relationship within an Australian cohort to test this theory.

Original languageEnglish
Title of host publicationAdvances in Experimental Medicine and Biology
Place of PublicationSwitzerland
Number of pages5
ISBN (Electronic)9783030273781
ISBN (Print)9783030273774
Publication statusE-pub ahead of print - 29 Dec 2019

Publication series

NameAdvances in Experimental Medicine and Biology
ISSN (Print)0065-2598
ISSN (Electronic)2214-8019

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  • Projects

    From discovery to therapy in genetic eye diseases

    Mackey, D., Craig, J., Burdon, K., Jamieson, R., Grigg, J., Chen, F., Otlowski, M., Schofield, D., MacGregor, S. & Hewitt, A.

    National Health & Medical Research Council NHMRC


    Project: Research

    Cite this

    Thompson, J. A., Chiang, J. P. W., De Roach, J. N., McLaren, T. L., Chen, F. K., Hoffmann, L., Campbell, I., & Lamey, T. M. (2019). Analysis of the ABCA4 c.[2588G>C;5603A>T] Allele in the Australian Population. In Advances in Experimental Medicine and Biology (Vol. 1185, pp. 269-273). (Advances in Experimental Medicine and Biology; Vol. 1185). Springer.