European Journal of Human Genetics - Clinical utility gene card for: Choroideremia

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European Journal of Human Genetics - Clinical utility gene card for: Choroideremia

Clinical Utility Gene Card

European Journal of Human Genetics advance online publication 21 August 2013; doi: 10.1038/ejhg.2013.183

Clinical utility gene card for: Choroideremia

Mariya Moosajee^1,2, Simon C Ramsden³, Graeme CM Black³, Miguel C Seabra^4,5,6 and Andrew R Webster^1,2

1. ¹Institute of Ophthalmology, UCL, London, UK
2. ²Moorfields Eye Hospital NHS Foundation Trust, London, UK
3. ³Genetic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK
4. ⁴Department of Molecular Medicine, Imperial College London, London, UK
5. ⁵CEDOC, Faculdade de Ciência Médicas, Universidade Nova de Lisboa, Lisbon, Portugal
6. ⁶Instituto Gulbenkian de Ciência, Oeiras, Portugal

Correspondence: Dr M Moosajee, UCL Institute of Ophthalmology, 11-43 Bath Street, London, EC1V 9EL, UK. Tel: +44 207 608 6971; Fax: +44 207 608 6830; E-mail: m.moosajee@ucl.ac.uk

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1. DISEASE CHARACTERISTICS

1.1 Name of the disease (synonyms)

Choroideremia (Tapetochoroidal dystrophy).

1.2 OMIM# of the disease

303100.

1.3 Name of the analysed genes or DNA/chromosome segments

CHM (formerly REP1, GGTA, RAB geranylgeranyl transferase component A or RAB GG transferase).

1.4 OMIM# of the gene(s)

300390.

1.5 Mutational spectrum

Choroideremia is an X-linked recessive inherited chorioretinal dystrophy caused by mutations in the CHM gene, this spans a genomic sequence of ~150 kb on chromosome Xq 21.2, contains 15 exons and encodes a ubiquitously expressed protein of 653 amino acids; Rab Escort Protein 1 (REP1). REP1 is an essential component of the catalytic Rab geranyl-geranyl transferase (RGGTase) II complex, and is involved in the regulation of intracellular membrane transport traffic.