کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
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1998950 | 1065830 | 2010 | 4 صفحه PDF | دانلود رایگان |
![عکس صفحه اول مقاله: Novel 47.5-kb deletion in RAB27A results in severe Griscelli Syndrome Type 2 Novel 47.5-kb deletion in RAB27A results in severe Griscelli Syndrome Type 2](/preview/png/1998950.png)
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.
Journal: Molecular Genetics and Metabolism - Volume 101, Issue 1, September 2010, Pages 62–65