PedAM
Pediatric Disease Annotations & Medicines
| Disease | c syndrome |
| Phenotype | C0018784|sensorineural deafness |
| Sentences | 2 |
| PubMedID- 24763291 | A large-scale screening study for genes in yeast displaying haploinsufficiency found that haploinsufficiency of coq6 resulted in a mild reduction of fitness in a medium containing glucose.19 a recent study demonstrated that both homozygous and compound heterozygous loss-of-function mutations in the human coq6 gene caused early-onset steroid-resistant nephritic syndrome with sensorineural deafness, which progressed to end-stage renal failure by a median age of <2 years, and two single heterozygous nonsense mutations were also identified in two families with cyclosporin a–dependent nephritic syndrome and diffuse mesangial sclerosis.7 therefore, it may be assumed that the coq6 haploinsufficiency may be conditional and tissue/cell specific. |
| PubMedID- 21540551 | Coq6 mutations in human patients produce nephrotic syndrome with sensorineural deafness. |
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