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Determination of the deletion breakpoints in two patients with contiguous gene syndrome encompassing CYBB gene.

Abstract：

:X-linked chronic granulomatous disease is a primary immunodeficiency caused by mutations in CYBB. Although large deletions involving CYBB are known to cause contiguous gene syndrome (CGS), only a few patients have been studied precisely at the molecular levels. Our study determined the deletion breakpoints in two patients with CGS involving CYBB by array comparative genomic hybridization and the following PCR and DNA walking studies. The deletion size was 3.5 Mb in Patient 1 and 0.8 Mb in Patient 2. There were no homologous architectural features between the telomeric and centromeric breakpoint junctions in the deletions of either patient. However, the telomeric breakpoint of Patient 2 was embedded in a stretch of low-copy repeats and the centromeric breakpoint was also embedded in a stretch of short segments with significant sequence homology. These findings suggest the potential involvement of genome architecture in stimulating genomic rearrangements in Patient 2.

journal_name

Eur J Med Genet

journal_title

European journal of medical genetics

authors

Yamada M,Arai T,Oishi T,Hatano N,Kobayashi I,Kubota M,Suzuki N,Yoda M,Kawamura N,Ariga T

doi

10.1016/j.ejmg.2010.08.003

subject

Has Abstract

pub_date

2010-11-01 00:00:00

pages

383-8

issue

6

eissn

1769-7212

issn

1878-0849

pii

S1769-7212(10)00084-4

journal_volume

53

pub_type

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