Novel 47.5-kb deletion in RAB27A results in severe Griscelli Syndrome Type 2
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- 作者：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
- 关键词：GTPase ; Hypopigmentation ; Immunodeficiency ; Lytic granule ; Melanosome ; SNP-array
- 刊名：Molecular Genetics and Metabolism
- 出版年：2010
- 出版时间：September 2010
- 年：2010
- 卷：101
- 期：1
- 页码：62-65
- 全文大小：500 K
文摘
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.