Skewed X-inactivation in carriers of X-linked dyskeratosis congenita.

1.4 Mb candidate gene region for X linked dyskeratosis congenita defined by combined haplotype and X chromosome inactivation analysis.

Dyskeratosis congenita (DC) is a rare inherited disorder characterised by the early onset of reticulate skin pigmentation, nail dystrophy, and mucosal leucoplakia. In over 80% of cases bone marrow failure develops and this is the main cause of early mortality. The DC1 gene responsible for the X linked form (MIM 305000) of dyskeratosis congenita has been mapped to Xq28. In order to narrow the ca...

X-inactivation patterns in carriers of X-linked myotubular myopathy.

X-linked myotubular myopathy is a rare severe muscle disorder in affected male neonates. Most female carriers are free from symptoms. Skewed X inactivation has been proposed to be responsible for the affected phenotype seen in some carriers. We have compared the X inactivation patterns in blood DNA with the clinical phenotype in carriers of X-linked myotubular myopathy. The X-inactivation analy...

دیسکراتوز مادرزادی: گزارش موردی

Background: Dyskeratosis Congenita (DC) is a rare inherited disease with an incidence of approximately one case per million population. The disease is characterized by a classic triad: nail changes, color reticulated skin and oral leukoplakia. In these patients, premature death is often associated with bone marrow failure, infections, pulmonary complications, or malignancy. Three patterns of in...

X Chromosome Inactivation in Opioid Addicted Women

Introduction: X chromosome inactivation (XCI) is a process during which one of the two X chromosomes in female human is silenced leading to equal gene expression with males who have only one X chromosome. Here we have investigated XCI ratio in females with opioid addiction to see whether XCI skewness in women could be a risk factor for opioid addiction. Methods: 30 adult females meeting DS...

Recurrent A353V mutation in a Thai family with X-linked dyskeratosis congenita.