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Table 1 Summary of clinical, biochemical and genetic findings in manifesting carriers

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

  Patients
Symptoms F1 (9529)d F2 (93232) F3 (9228) F4 (9229) F5 (91284) F6 (92209) F7 (92283) F8(92292) F9 (94228)
Mental retardation ++
5 years old, could only express single words
+++
34 years old, unable to read, write, talk
+++
9 years old, no language
+
22 years old, mild mental retardation
++
10 years old, significant learning difficulties
+++
2 years old, severe mental retardation
+++
41 years old, severe mental retardation
+
14 years old, mild mental retardation
+
29 years old, mild mental retardation
Motor retardation ++ +++ +++ + No + +   No
Convulsions + + No No No   +   No
Ataxia + + +   No     +
Hypotonia + + +    +    No
Hypothermia + No + No No   No   
Failure to thrive + + + No No     
Diarrhoea - No + No No   No   
Dry skin + + + + + + +   +
Skeletal Changes + + +       
Occipital horns    +     No   
Loose joints   + + No No   No   +
Cutis laxa   No + No No     +
Abnormal hair + + + No + + + +  
Hypopigmentation + No +   + + No +  
Born, gestation week 32nd 38nd 35nd 35nd 40nd 38nd 36nd   
Recurrent infections + + +     No   
Reduced serum Copper/ceruloplasmin +/+ No/No +/+ No/No No/No    +/+ No/No
Increased Cu uptake/retention +/NA +/+ +/+ +/+ NA/NA +/+ +/+ No/+ +/+
Mutation c.1946 + 5G > A
(IVS8 + 5G > A)
Unknownb c.1554-?_
1707 +?del
(Ex6del)
c.1554-?_
2172 +?del
(Ex6_9del)
c.4123 + 5G > A
(IVS21 + 5G > A)
c.2179G > A
(p.G727R)
c.2383C > A (p.R795X) c.-22-?del
(Ex1del)
c.532G > T (p.E178X)
X-inactivation ratio(M:N) a 24:76 0:100c I.C. 80:20 51:49 4:96 0:100 I.C 100:0
  1. Empty squares indicate that the information is not available. aRatio denote the percentage of cells with the X-chromosome bearing the ATP7A mutation inactivated (M): percentage of cells with the normal chromosome inactivated (N). NA; not analysed. bThe mutation is not identified. Quantization of ATP7A mRNA transcript revealed that the level was below the detection limit. cWe assume that the normal allele is inactivated based on the absent of ATP7A transcript. I.C. Inconclusive. dF1 has two heterozygous sisters both also born prematurely, but with no symptoms of Menkes disease.