Table 2.
Clinical and genotypic data of the patients- 35 patients were screened for the mutation and 3 were died prior to the genetic confirmation. (AMN: Adrenomyeloneuropathy; ccALD: Childhood cerebral ALD).
No | Pedigree Code | Age | Sex | Genotype | Phenotype | Others |
---|---|---|---|---|---|---|
1 | III-2 | - | Female | Carriers | - | - |
2 | III-3 | 88 | Female | Carriers | Asymptomatic | - |
3 | III-10 | 73 | Female | Carriers | Asymptomatic | - |
4 | IV-3 | - | Female | Carriers | - | - |
5 | IV-11 | 57 | Female | Carriers | Asymptomatic | - |
6 | IV-13 | 60 | Female | Carriers | Asymptomatic | - |
7 | IV-16 | 55 | Female | Carriers | AMN | - |
8 | IV-18 | 43 | Female | Carriers | AMN | - |
9 | IV-21 | 54 | Female | Carriers | AMN | - |
10 | IV-26 | 36 | Female | Carriers | Asymptomatic | - |
11 | V-4 | 7 | Female | Carriers | Asymptomatic | - |
12 | V-11 | 28 | Female | Carriers | Asymptomatic | - |
13 | V-14 | 29 | Female | Carriers | Asymptomatic | Β-Thalassemia minor |
14 | V-30 | 5 | Female | Carriers | Asymptomatic | - |
15 | VI-1 | 10 | Female | Carriers | Asymptomatic | - |
16 | VI-4 | 16 | Female | Carriers | Asymptomatic | Β-Thalassemia minor |
17 | V-23 | 32 | Female | Affected | Asymptomatic | - |
18 | V-26 | 21 | Female | Affected | Asymptomatic | - |
19 | V-28 | Dead by 11 yr; | Female | Affected | ccALD | Dead before screening |
20 | V-29 | 22 | Female | Affected | AMN | - |
21 | IV-1 | Dead by 15 yr; | Male | Affected | ccALD | Dead before screening |
22 | IV-9 | 41 | Male | Affected | AMN | - |
23 | IV-15 | 15 | Male | Affected | AD | - |
24 | IV-19 | 57 | Male | Affected | AMN | Primary diagnosis and treatment of MS |
25 | IV-27 | 36 | Male | Affected | Asymptomatic | - |
26 | V-3 | 26 | Male | Affected | - | - |
27 | V-6 | Dead by 26 yr; | Male | Affected | AMN | Dead before screening |
28 | V-7 | 45 | Male | Affected | Asymptomatic | - |
29 | V-13 | 23 | Male | Affected | AMN | - |
30 | V-25 | 24 | Male | Affected | Asymptomatic | - |
31 | V-27 | 21 | Male | Affected | Asymptomatic | - |
32 | V-33 | 27 | Male | Affected | Asymptomatic | - |
33 | V-36 | 24 | Male | Affected | Asymptomatic | - |
34 | V-43 | 8 | Male | Affected | ccALD | Treated with stem cells but dead by 11 yr |
35 | V-44 | 7 | Male | Affected | Asymptomatic | - |
36 | IV-22 | 45 | Male | Genetically unaffected | AMN | - |
37 | V-19 | 21 | Female | Genetically unaffected | Asymptomatic | Β-Thalassemia minor |
38 | V-20 | 34 | Female | Genetically unaffected | Asymptomatic | Β-Thalassemia minor |