Clinical expression of Menkes disease in females with normal karyotype

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

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)

DNA extracted from B: blood sample; T: transformed lymphocytes; F: cultured fibroblasts.
^aSister F1-S1. ^bThe mother of F2 showed also highly skewed X-inactivation pattern, but with the opposite X chromosome active.
^cMother of F5. ^dSister F8-S1.^eSister F9-S1.

ISSN: 1750-1172