Two genes are responsible for Griscelli syndrome at the same 15q21 locus |
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| Authors: | Pastural E Ersoy F Yalman N Wulffraat N Grillo E Ozkinay F Tezcan I Gediköglu G Philippe N Fischer A de Saint Basile G |
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| Institution: | 1. Unité de Recherches sur le développement normal et pathologique du système immunitaire, INSERM U429, Hôpital Necker Enfants Malades, 149 rue de Sèvres, 75743, Paris Cedex 15, France;2. University of Hacettepe, Pediatric Immunology Unit, Hacettepe Children''s Hospital, Ankara, Turkey;3. Istanbul Tip Fakültesi, Cocuk Hastaliklari Kat, 6 Capa, Istanbul, Turkey;4. Department of Pediatric Immunology, KC03.63.0, Wilhelmina Children''s Hospital, Lundlaan 6, PO Box 85090, 3508AB, Utrecht, The Netherlands;5. Rd Admar Gonzaga, 1113 Apto 404, 88034-001, Florianopolis-SC, Brazil;6. Department of Pediatrics, Faculty of Medicine, Ege University, Bornova, Izmir, Turkey;7. Immuno-hématologie pédiatrique, Hôpital Debrousse, 29 rue Sœur Bouvier, 69322, Lyon Cedex 05, France;1. Nutritional & Reproductive Physiology Laboratory, Northern Agricultural Research Center, Montana State University, 3710 Assinniboine Road, Havre, MT 59501, USA;2. INSERM, Laboratory of Development and Plasticity of the Neuroendocrine Brain, Jean-Pierre Aubert Research Centre, U1172, Lille, France;3. Department of Animal Sciences, North Dakota State University, Fargo, ND 58108, USA;1. Department of Animal Health, Faculty of Veterinary Medicine, University of León, Spain;2. Laboratory of Microbiology and Advanced Immunology, Faculty of Agronomy and Veterinary Medicine, University of Passo Fundo, Brazil;3. Department of Genetics, Faculty of Veterinary Medicine, University of Córdoba, Spain;4. INBIOTEC (Biotechnology Institute), Scientific Park in León, Avda. Real 1, León, Spain;1. Universidade Estadual Paulista, Instituto de Biociências, Letras e Ciências Exatas, São José do Rio Preto, Brazil;2. Faculdade de Medicina de São José do Rio Preto, Centro de Investigação de Microrganismos, São José do Rio Preto, Brazil;3. Universidade Federal do Pará, Instituto de Ciências Biológicas, Belém, Brazil;4. Universidade Federal do Sergipe, Departamento de Biologia, Aracaju, Brazil;5. Universidade Federal do Pará, Laboratório de Genética Humana e Médica, Belém, Brazil;6. Laboratório de Pesquisas Básicas em Malária, Instituto Evandro Chagas, Secretaria de Vigilância em Saúde, Ananindeua, Brazil |
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| Abstract: | Griscelli syndrome is a rare autosomal recessive disease characterized by pigment dilution, variable cellular immunodeficiency, and an acute phase of uncontrolled T lymphocyte and macrophage activation. We previously mapped the disease locus to 15q21 and showed that a MyoVa gene (HGMW-approved symbol MYO5A) defect leads to Griscelli syndrome. We report a second MyoVa mutation in a new patient, confirming this first finding. However, in four other Griscelli syndrome patients analyzed, the MYOVA protein is expressed, and no mutation can be detected in the MyoVa gene coding sequence, even in the alternatively spliced region for which exon-intron boundaries were characterized. Linkage analysis performed in 15 Griscelli families thus far studied confirms the first localization. However, fine haplotype analysis in three families strongly suggests the existence of a second gene at the same locus for Griscelli syndrome less than 7.3 cM distant from the MyoVa gene. |
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