| Novel 47.5-kb deletion in RAB27A results in severe Griscelli Syndrome Type 2. | |
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MedLine Citation:
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PMID: 20591709 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Griscelli syndrome (GS), a rare autosomal recessive disorder characterized by partial albinism and immunological impairment and/or severe neurological impairment, results from mutations in the MYO5A (GS1), RAB27A (GS2), or MLPH (GS3) genes. We identified a Hispanic patient born of a consanguineous union who presented with immunodeficiency, partial albinism, hepatic dysfunction, hemophagocytosis, neurological impairment, nystagmus, and silvery hair indicative of Griscelli Syndrome Type 2 (GS2). We screened for point mutations, but only exons 2-6 of the patient's DNA could be PCR-amplified. Whole genome analysis using the Illumina 1M-Duo DNA Analysis BeadChip identified a homozygous deletion in the patient's DNA. The exact breakpoints of the 47.5-kb deletion were identified as chr15q15-q21.1: g.53332432_53379990del (NCBI Build 37.1); the patient lacks the promoter and 5'UTR regions of RAB27A, thus confirming the diagnosis of GS2. |
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Authors:
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Lisa M Vincent; Fred Gilbert; Jennifer I DiPace; Carla Ciccone; Thomas C Markello; Andrew Jeong; Heidi Dorward; Wendy Westbroek; William A Gahl; James B Bussel; Marjan Huizing |
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Publication Detail:
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Type: Case Reports; Journal Article; Research Support, N.I.H., Intramural Date: 2010-06-10 |
Journal Detail:
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Title: Molecular genetics and metabolism Volume: 101 ISSN: 1096-7206 ISO Abbreviation: Mol. Genet. Metab. Publication Date: 2010 Sep |
Date Detail:
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Created Date: 2010-08-16 Completed Date: 2011-01-24 Revised Date: 2011-09-13 |
Medline Journal Info:
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Nlm Unique ID: 9805456 Medline TA: Mol Genet Metab Country: United States |
Other Details:
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Languages: eng Pagination: 62-5 Citation Subset: IM |
Affiliation:
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Section on Human Biochemical Genetics, Medical Genetics Branch, NHGRI, NIH, Bethesda, MD 20892, USA. |
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| MeSH Terms | |
Descriptor/Qualifier:
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Base Sequence Humans Immunologic Deficiency Syndromes / genetics Models, Genetic Molecular Sequence Data Mutation Pedigree Piebaldism / genetics Sequence Deletion / genetics* rab GTP-Binding Proteins / genetics* |
| Grant Support | |
ID/Acronym/Agency:
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Z01 HG200322-04/HG/NHGRI NIH HHS; ZIA HG000215-07/HG/NHGRI NIH HHS; ZIA HG200322-05/HG/NHGRI NIH HHS |
| Chemical | |
Reg. No./Substance:
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EC 3.6.1.-/rab GTP-Binding Proteins; EC 3.6.1.-./RAB27A protein, human |
| Comments/Corrections | |
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