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 |