Table 1.
Phenotypes of humans with CBS genetic deficiencies
| References | |
|---|---|
| Cardiovascular system | |
| Homozygote | |
| Early thrombotic events (<50 yr old) (51% peripheral veins, 32% cerebrovascular accidents, 11% peripheral arteries, 4% myocardial infarctions, and 2% other) | 116 |
| Abdominal aortic aneurysm | 7 |
| Heterzygote | |
| Coronary artery disease | 25 |
| Nervous system | |
| Homozygote | |
| Mental retardation | 1 |
| Psychiatric disorders | 1 |
| Seizures | 1 |
| Skeletal System | |
| Homozygote | |
| Marfanoid habitus | 116 |
| Osteoporosis | 124 |
| Occular system | |
| Homozygote | |
| Ectopia lentis | 116 |
| Skin | |
| Homozygote | |
| Hypopigmentation | 129 |
| Other | |
| Homozygote | |
| Pancreatitis | 28, 107, 125 |
| Spontaneous pneumothorax | 11 |
The reader is referred to the extensive cystathionine β-synthase (CBS) mutation database curated by Dr. Jan Kraus for data linking specific gene mutations to respective disease states: http://cbs.lf1.cuni.cz/ and http://cbs.lf1.cuni.cz/search_res.php