Gene deletion analysis of a Chinese boy with Xp21 contiguous gene deletion syndrome

摘要

A.p21 contiguous gene deletion syndrome, sometimes called complex glycerol kinase deficiency, is associated with variable size Xp21 deletions that usually include the glycerol kinase gene and span multiple Xp21 disease gene loci in the region. The order of the potentially affected loci are as follows: Xpter-Aland Island eye disease (AIED), congenital adrenal hypoplasia (AHC), glycerol kinase deficiency (GKD), Duchenne muscular dystrophy (DMD), chronic granulomatous disease (CGD), McLeod phenotype (XK), retinitis pigmentosa ( RP), ornithine transcarbamylase ( OTC) and centromere. Clinically, Xp21 contiguous gene deletion syndrome is often misdiagnosed as only one of the multiple single-gene disorders affecting patients. In this report, we investigated the extent of gene deletion in a Chinese boy with Xp21 contiguous gene deletion syndrome involving the DMD, GKD, and AHC loci.