Table 2.
Heterozygous gene defect in the deleted region 11q23.3q25
| OMIM | Gene | Disease | Inheritance | Dosis |
|---|---|---|---|---|
| 602574 | TECTA | deafness | AD/AR | haploinsufflciency |
| 608214 | SCN3B | atrial fibrillation and Brugada 7 syndrome | AD | dominant negative/haploinsufflciency |
| 608707 | CDON | holoprosencephaly type 11 | AD | haploinsufflciency |
| 104240 | ST3GAL4 | reduction in plasma levels of von Willebrand factor and platelets/thrombocytopenia | AD/AR | haploinsufflciency |
| 607761 | KIRREL3 | mental retardation | AD | haploinsufflciency |
| 600734 | KCNJ5 | hyperaldosteronism familial and long QT syndrome | AD | dominant negative/haploinsufflciency |
| 607938 | NTM | thoracic aortic and intracranial aneurysms | AD | haploinsufflciency |
| 164720 | ETS1 | small ventricular septal defect in mouse | AD | haploinsufflciency |
AD = Autosomal dominant; AR = autosomal recessive.