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.