domingo, 1 de septiembre de 2013

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 Moosajee1,2, Simon C Ramsden3, Graeme CM Black3, Miguel C Seabra4,5,6 and Andrew R Webster1,2
  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:


1.1 Name of the disease (synonyms)

Choroideremia (Tapetochoroidal dystrophy).

1.2 OMIM# of the disease


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)


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 ~150kb 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.

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