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Table 2 X-inactivation pattern in affected females and family members

From: Clinical expression of Menkes disease in females with normal karyotype

Family, mutation type Affected females (n = 9)
Inactivation mutant X:normal X
Unaffected carriers (n = 15)
Inactivation mutant X:normal X
Non-carriers (n = 4)
Activity of X1:X2
F1, splicing intron 8 24:76% (3426-85F) 2 people: 3 people: 95:5% (M85-3427F);
   100:0% (79185F); 70:30%.(3494-85F);
   98:2% (78985F)a 70:30% (D92-5215T)
F2, unknown 0:100% (D92-6267F)   
  (based on Real time RT-PCR results)b   
F3, exon 6del Inconclusive (D00-43654F) 1 person: 90:10% (5974B)  
F4, exon 6_9del 80:20%; 78:22% (D91-3753T; D67859F) 6 people: 98:2% (AM280F);100:0%(1161T); 1 person: 100:0% (67807F)
   100:0% (67803F); 100:0% (67802F);  
   73:27% (44505T); 96:4% (41569B)  
F5, splicing intron 21 51:49% (33744B) 1 person:78:22% (39012B)c  
F6, missense exon 10 4:96% (59135F)   
F7, nonsense exon 10 0:100% (D92-5810T) 2 people:  
   92:8%;100:0% (D91-1195T; D95-24179F);  
   100:0% (D92-5613T)  
F8, exon 1del Inconclusive (D92-7418F) 1 person:100:0% (D94-1503F)d  
F9, nonsense exon 3 100:0%(23508F) 2 people:  
   100:0% (23509F)e;  
   74:26%(41882F)  
  1. DNA extracted from B: blood sample; T: transformed lymphocytes; F: cultured fibroblasts.
  2. aSister F1-S1. bThe mother of F2 showed also highly skewed X-inactivation pattern, but with the opposite X chromosome active.
  3. cMother of F5. dSister F8-S1.eSister F9-S1.