Projects per year
Abstract
Choroideremia is an X-linked chorioretinal dystrophy caused by mutations in the CHM gene. Several CHM gene replacement clinical trials are in advanced stages. In this study, we report the molecular confirmation of choroideremia in 14 Australian families sourced from the Australian Inherited Retinal Disease Registry and DNA Bank. Sixteen males (14 symptomatic) and 18 females (4 symptomatic; 14 obligate carriers) were identified for analysis. Participants’ DNA was analyzed for disease-causing CHM variants by Sanger sequencing, TaqMan qPCR and targeted NGS. We report phenotypic and genotypic data for the 14 symptomatic males and four females manifesting disease symptoms. A pathogenic or likely pathogenic CHM variant was detected in all families. Eight variants were previously reported, and five were novel. Two de novo variants were identified. We previously reported the molecular confirmation of choroideremia in 11 Australian families. This study expands the CHM genetically confirmed Australian cohort to 32 males and four affected carrier females.
Original language | English |
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Article number | 35 |
Journal | Human Genome Variation |
Volume | 7 |
Issue number | 1 |
DOIs | |
Publication status | Published - 1 Dec 2020 |
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Dive into the research topics of 'Expanding the genetic spectrum of choroideremia in an Australian cohort: report of five novel CHM variants'. Together they form a unique fingerprint.Projects
- 3 Finished
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MRFF - Developing Personalised Treatment for Retinal Degeneration
National Health & Medical Research Council NHMRC
1/01/18 → 31/12/21
Project: Research
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From discovery to therapy in genetic eye diseases
Mackey, D., Craig, J., Hewitt, A., Burdon, K., Jamieson, R., Grigg, J., MacGregor, S., Chen, F., Otlowski, M. & Schofield, D.
National Health & Medical Research Council NHMRC
1/01/16 → 31/12/20
Project: Research
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