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   Skewed X inactivation in Lesch–Nyhan disease carrier females  
   
نویسنده Torres Rosa J ,Puig Juan G
منبع journal of human genetics - 2017 - دوره : 62 - شماره : 12 - صفحه:1079 -1083
چکیده    X chromosome inactivation (xci) ratios of normal females can range from a highly skewed ratio of 0:100 to a 50:50 ratio. in several x-linked disorders, female carriers present skewed x inactivation. hypoxanthine–guanine phosphoribosyltransferase (hprt) deficiency is an x-linked disorder. males are affected and present with the complete lesch–nyhan disease (lnd) or with a partial phenotype (lesch–nyhan variant, lnv). female carriers are usually asymptomatic. the aim of the present study was to analyze the xci pattern of hprt-deficiency carrier females. as a group, 75% of hprt-deficiency carrier females presented skewed xci. moreover, skewed xci is significantly more frequent in lnd carriers (83%) than in lnv (0–50%, depending on the phenotype severity). the ratios of the preferentially inactivated allele of carrier females were significantly higher than the ratios of the preferentially inactivated allele of noncarrier females (89.4±15, n=52 vs 65.2±12, n=52; p<0.0001). for carrier diagnosis, the presence of skewed xci presents a sensitivity of 75% with a specificity of 85%. in lnd families, the presence of skewed xci is more sensitive for carrier diagnosis than in lnv families; however, we believe that this test is not accurate for carrier diagnostic purposes.
آدرس La Paz University Hospital (FIBHULP), Spain. Center for Biomedical Network Research on Rare Diseases (CIBERER), Spain, La Paz University Hospital, Department of Internal Medicine, Metabolic-Vascular Unit, Spain
 
     
   
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