Choroideremia gene testing

Expert Review of Molecular Diagnostics
Ian M MacDonaldDean Mah

Abstract

Choroideremia is a chorioretinal degeneration displaying X-linked recessive inheritance. In recent years, technological advances have increased the accessibility of genetic testing for mutations in the gene that lead to this disorder. The disorder itself, approaches for its detection and the steps and the rationale behind testing are outlined in this review. All mutations in the choroideremia gene result in the truncation or absence of the normal protein product Rab escort protein-1, which is a component of Rab geranylgeranyltransferase, an enzyme complex that mediates correct intracellular vesicular transport. Sequence analysis of the 15 exons of the choroideremia gene and adjacent splice sites is a primary method of mutation detection used by the authors' laboratory, through which a variety of mutations including nonsense mutations, insertions, deletions and splice site alterations have been detected. Alternatively, if no mutations are revealed using this approach, reverse transcription PCR, northern blot analysis or a protein truncation test can be employed to detect aberrantly spliced products. Immunoblot analysis can also be performed to confirm the absence of Rab escort protein-1 in affected males. Deletions create a prac...Continue Reading

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Citations

Jan 30, 2013·Molecular Therapy : the Journal of the American Society of Gene Therapy·Shannon E BoyeWilliam W Hauswirth
Jan 10, 2013·Investigative Ophthalmology & Visual Science·Reema SyedJacque L Duncan
May 12, 2009·Mutation Research·Y V SergeevI M Macdonald
Jan 10, 2013·Ophthalmic & Physiological Optics : the Journal of the British College of Ophthalmic Opticians (Optometrists)·Qi ZhouIan M MacDonald
Oct 16, 2016·Scientific Reports·Xue-Bi CaiZi-Bing Jin
Nov 30, 2018·Genes·David J JiangStephen H Tsang
Feb 14, 2006·Genesis : the Journal of Genetics and Development·Richard J DavisGraeme Mardon
Nov 20, 2019·International Journal of Molecular Sciences·Lucia ZiccardiMonica Varano
Nov 22, 2017·Retina·Abdullah A Al-QahtaniPaul Yang
Dec 5, 2019·Retina·Francesco RomanoMaurizio Battaglia Parodi
Jan 11, 2019·Therapeutic Advances in Ophthalmology·Andreas MitsiosMariya Moosajee
Jun 26, 2020·The British Journal of Ophthalmology·Alessandro ArrigoRobert E Maclaren
Feb 5, 2021·Human Mutation·Christina ZeitzIsabelle Audo

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