ArticleMolecular genetics and metabolism2010
Novel 47.5-kb deletion in RAB27A results in severe Griscelli Syndrome Type 2.
Article in Molecular genetics and metabolism, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed, 14 citations in OpenAlex.
- Identification of a novel SBF2 missense mutation associated with a rare case of thrombocytopenia using whole-exome sequencing.Journal of thrombosis and thrombolysis · 2013Trial
- Contribution of next generation sequencing to the diagnosis of inborn errors of immunity in a pediatric cohort.Frontiers in immunology · 2025Article
- Griscelli Syndrome Type 2: Comprehensive Analysis of 149 New and Previously Described Patients with RAB27A Deficiency.Journal of clinical immunology · 2024Article
- A RAB27A 5' untranslated region structural variant associated with late-onset hemophagocytic lymphohistiocytosis and normal pigmentation.The Journal of allergy and clinical immunology · 2018Article
- Mapping of Id locus for dermal shank melanin in a Chinese indigenous chicken breed.Journal of genetics · 2017Article
- High resolution copy number variation data in the NCI-60 cancer cell lines from whole genome microarrays accessible through CellMiner.PloS one · 2014Article
- Rab GTPases implicated in inherited and acquired disorders.Seminars in cell & developmental biology · 2011Review
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Authors and funding
11 authors at 3 institutions in 1 country.
Funding
Abstract
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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