Table 2.
List of Genes Previously Reported Only in the Context of Dominant Disorders but Were Found to Harbor Likely Deleterious Recessive Forms of Genes in this Cohort
| ID | Gene | Variant(s) | Zygosity | Dominant phenotype | Observed recessive phenotype | Phenotype comparison |
|---|---|---|---|---|---|---|
| 17-6650 | ATP6V1B2 | GenBank: NM_001693.3:c.1001T>C:p.Ile334Thr | Hom | Zimmermann-Laband syndrome 2 | Distinct cutis laxa syndrome identical to that described for ATP6V1E1 (PMID: 27023906) | Distinct |
| 16-2726 | ATP6V1B2 | GenBank: NM_001693.3:c.1001T>C:p.Ile334Thr | Hom | Zimmermann-Laband syndrome 2 | Distinct cutis laxa syndrome identical to that described for ATP6V1E1 (PMID: 27023906) | Distinct |
| REQ18-1700 | BAAT | GenBank: NM_001127610.1:c.2T>A:p.? | Hom | Cholestatic liver disease | Cholestatic liver disease | Similar |
| 17-5309 | MYH11 | GenBank: NM_002474.2:c.3424C>T:p.Arg1142Ter | Hom | Aortic aneurysm and familial thoracic 4 | Megacystis, bilateral hydronephrosis, absent stomach, borderline polyhydramnios, microcolon, and intestinal hypoperistalsis | Distinct |
| 17-0807 | MYH11 | GenBank: NM_022844.2:c.1033+1G>A | Hom | Aortic aneurysm and familial thoracic 4 | Megacystis | Distinct |
| 18-1351 | NOTCH3 | GenBank: NM_000435.3:c.1790G>C:p.Cys597Ser | Hom | CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy) | Neuropsychiatric disturbances, migraine headache, periventricular leukomalacia and temporal lobe pole hyperintensity. Suspected CADASIL | Similar |
| 17-5492 | PITX3 | GenBank: NM_005029.3:c.640_656del:p.Ala214ArgfsTer42 | Hom | Anterior segment dysgenesis | GDD, microphthalmia, blindness, cataracts, and spastic quadriplegia | More severe |
| 17-3180 | POU4F3 | GenBank: NM_002700.2:c.488delA:p.His163ProfsTer41 | Hom | Hearing loss (onset between the second and sixth decades) | Bilateral, prelingual, profound sensorineural hearing loss | More severe |
| 16-3003 | PPM1D | GenBank: NM_003620.3:c.939_940delTG:p.Ser313ArgfsTer28 | Hom | Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold | GDD and epilepsy | Similar |
| 17-4393 | SLC4A10 | GenBank: NM_022058.3:c.2773-2A>C | Hom | Complex partial epilepsy and mental retardation | Intellectual disability and epilepsy | Similar |
Abbreviations are as follows: Hom = homozygous and GDD = global developmental delay.