Griscelli syndrome type 1: a report of two cases and review of the literature.

North West Thames Regional Genetics Centre, Northwick Park and St Mark’s Hospital, Harrow, Oxford Regional Genetics Service, Churchill Hospital, Oxford, St Mary’s Hospital, London, Southwark Children and Young Peoples Development Centre, London, West Midlands Regional Genetics Centre, Birmingham Women’s Hospital, Edgbaston, Birmingham, Nottingham Department of Clinical Genetics, City Hospital, Nottingham, UK and Hôpital Necker-Enfantes-Malades, Paris, France Correspondence to Dr Angela F Brady, Consultant in Clinical Genetics, North West Thames Regional Genetics Service, Northwick Park Hospital, Harrow HA1 3UJ, London, UK Tel: + 44 20 8869 2795; fax: + 44 20 8869 3106; e-mail: a.brady@imperial.ac.uk

[1]  J. Voltarelli,et al.  Griscelli Syndrome: Characterization of a New Mutation and Rescue of T-Cytotoxic Activity by Retroviral Transfer of RAB27A Gene , 2004, Journal of Clinical Immunology.

[2]  A. Fischer,et al.  Griscelli syndrome restricted to hypopigmentation results from a melanophilin defect (GS3) or a MYO5A F-exon deletion (GS1). , 2003, The Journal of clinical investigation.

[3]  P. Bahadoran,et al.  Comment on Elejalde syndrome and relationship with Griscelli syndrome , 2003, American journal of medical genetics. Part A.

[4]  A. Fischer,et al.  Griscelli syndrome types 1 and 2. , 2002, American journal of human genetics.

[5]  W. Gahl,et al.  Evidence that Griscelli syndrome with neurological involvement is caused by mutations in RAB27A, not MYO5A. , 2002, American journal of human genetics.

[6]  O. Sanal,et al.  An allelic variant of Griscelli disease: presentation with severe hypotonia, mental-motor retardation, and hypopigmentation consistent with Elejalde syndrome (neuroectodermal melanolysosomal disorder) , 2000, Journal of Neurology.

[7]  A. Fischer,et al.  Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome , 2000, Nature Genetics.

[8]  A. Fischer,et al.  Two genes are responsible for Griscelli syndrome at the same 15q21 locus. , 2000, Genomics.

[9]  A. Fischer,et al.  Griscelli disease maps to chromosome 15q21 and is associated with mutations in the Myosin-Va gene , 1997, Nature Genetics.

[10]  C. Griscelli,et al.  Prenatal diagnosis of syndromes associating albinism and immune deficiencies (Chediak‐Higashi syndrome and variant) , 1993, Prenatal diagnosis.

[11]  A. Valencia,et al.  Mutations affecting pigmentation in man: I. Neuroectodermal melanolysosomal disease. , 1979, American journal of medical genetics.

[12]  C. Griscelli,et al.  A syndrome associating partial albinism and immunodeficiency. , 1978, The American journal of medicine.