Details

Autor(en) / Beteiligte

• Edwards, T.L.
• Williams, J.
• Patrício, M.I.
• Simunovic, M.P.
• Shanks, M.
• Clouston, P.
• MacLaren, R.E.

Titel

Novel non‐contiguous exon duplication in choroideremia

Ist Teil von

• Clinical genetics, 2018-01, Vol.93 (1), p.144-148

Ort / Verlag

Oxford, UK: Blackwell Publishing Ltd

Erscheinungsjahr

2018

Quelle

Wiley Online Journals

Beschreibungen/Notizen

• The importance of establishing a genetic diagnosis in patients with a choroideremia phenotype has been underscored by the advent of gene replacement therapy for this condition. Here, we describe a complex imbalance at the CHM locus in a male patient with classical disease. At the DNA level, this imbalance consists of 2 non‐contiguous duplications (exons 1‐2 and 9‐12). Further characterization suggests the generation of 2 independent CHM transcriptional units, one of which may produce a deleted form of the Rab escort protein 1 protein. Expression of such a type of aberrant protein in photoreceptors may have important implications when considering gene therapy for this disorder.