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. 2013 Feb 13;8:24. doi: 10.1186/1750-1172-8-24

Table 1.

Epidemiological, genetic and clinical findings of AS patients in the present study

ID Age(y),Sex Genotype(exon) Vision deficit1 Hearing deficit2 Overweight3 Hypertension4 Heart Ejection fraction5 Dyslipidemia DM26 Hepatosteatosis Psisichiatric disorders P
1
 6, M
 heterozygosis 8 and 16
 +
 -
 ++
 -
 normal
 -
 +
 -
 -
2
 9, M
 heterozygosis 8 and 16
 +
 +
 ++
 -
 normal
 -
 +
 -
 -
3
 11, F
 heterozygosis 8
 +
 +
 +
 -
 normal
 -
 +
 +
 -
4
 12, F
 heterozygosis 8
 +
 +
 +
 -
 normal
 -
 +
 -
 -
5
 13, F
 heterozygosis 8 and 16
 ++
 +
 +
 +
 normal
 +
 ++
 +
 -
6
 18, M
 heterozygosis 8
 +
 +
 -
 -
 normal
 -
 +
 +
 -
7
 23, M
 heterozygosis 10
 +
 +
 +
 +
 25% *
 +
 ++
 +
 -
8
 26, F
 heterozygosis 16
 ++
 +
 ++
 +
 47%
 -
 ++
 +
 depression
9
 29, F
 heterozygosis 8 and 16
 ++
 +
 +
 -
 normal
 +
 +
 +
 depression
10
 31, M
 homozygosis 8
 ++
 +
 +
 +
 normal
 +
 -
 +
 anxiety,depression bulimia7
11
 43, M
 homozygosis 8
 ++
 +
 +
 +
 normal
 +
 -
 +
 paranoid personality, disorder 8
12 45, F homozygosis 10 ++ + - + normal + ++ + -

1Vision Deficit: + = severe ipovision (< 1/20); ++ = blindness.

2Hearing Deficit: - = normal hearing; + = hearing deficit >20dB;

3Overweight: - = normal weight (Body Mass Index 18.5 to 25), + = overweight (Body Mass Index 25 to 30); ++ = obesity (Body Mass Index > 30).

4Hypertension: - = normotensive; + = under antihypertensive treatment.

5Heart ejection Fraction: normal value > 55%.

6++ = diabetes mellitus type 2, + = insulin resistance or hyperinsulinemia or impaired glucose tolerance.

7 Under therapy with valproic acid, bromazepam and Olanzapine.

8 Under therapy with valproic acid, quetiapine, risperidone, paroxetine.

* Dilated Cardiomyopathy.