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

No.Genotype (Axon)Vision DeficitaHearing DeficitbOverweightcHypertensiondHeart Ejection FractioneDyslipidemiaDM2fPsychiatric Disorders
1Heterozygosis 8 and 16+−++−Normal−+−
2Heterozygosis 8 and 16++++−Normal−+−
3Heterozygosis 8 and un+++−Normal−+−
4Heterozygosis 8 and 10+++−Normal−+−
5Heterozygosis 8 and un+++++Normal+++−
6Heterozygosis 10 and 12++−−Normal−+−
7Heterozygosis 8 and 16++++25%g+++−
8Heterozygosis 8 and 8++++++47%−++Depression
9Heterozygosis 8 and 8++++−Normal++Depression
10Homozygosis 10 and 10+++++Normal+−Anxiety, depression, bulimiah
11Homozygosis 16 and un+++++Normal+−Paranoid personality disorderi
12Homozygosis 10+++−+Normal+++−

  • Note:—un indicates unknown mutation; DM2, diabetes mellitus type 2.

  • ↵a Vision Deficit: + indicates severe vision deficit (<1/20); ++, blindness.

  • ↵b Hearing Deficit: − indicates normal hearing; +, hearing deficit >20 dB.

  • ↵c Overweight: − indicates normal weight (body mass index, 18.5–25); +, overweight (body mass index, 25–30); ++, obesity (body mass index, >30).

  • ↵d Hypertension: − indicates normotensive; +, under antihypertensive treatment.

  • ↵e Heart Ejection Fraction: normal value, >55%.

  • ↵f DM2: ++ indicates diabetes mellitus type 2; +, insulin resistance or hyperinsulinemia or impaired glucose tolerance; –, no disorders in glucidic metabolism.

  • ↵g Dilated cardiomyopathy.

  • ↵h Under therapy with valproic acid, bromazepam, and olanzapine.

  • ↵i Under therapy with valproic acid, quetiapine, risperidone, and paroxetine.