Novel 47.5-kb deletion in RAB27A results in severe Griscelli Syndrome Type 2 Academic Article uri icon

Overview

MeSH Major

  • Sequence Deletion
  • rab GTP-Binding Proteins

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.

publication date

  • September 2010

Research

keywords

  • Academic Article

Identity

Language

  • eng

PubMed Central ID

  • PMC2922439

Digital Object Identifier (DOI)

  • 10.1016/j.ymgme.2010.05.015

PubMed ID

  • 20591709

Additional Document Info

start page

  • 62

end page

  • 5

volume

  • 101

number

  • 1