Nierenzellkarzinom und noduläre Dermatofibrose (RCND)
Renal cystadenocarcinoma and nodular fibrosis (RCND)
General description
A mutation in the BHD gene was found to cause hereditary multifocal renal cystadenocarcinoma and nodular dermatofibrosis (RCND) in the breed German Shepherd. RCND is an autosomal dominant trait and causes bilateral, multifocal tumors in the kidney, uterine leiomyomas in female dogs and nodules in the skin consisting of dense collagen fibres in heterozygous affected dog. This mutation seems to have an embryo-lethal effect on most homozygous affected dogs, so the fetus often dies before birth.
Breeds
German Shepherd Dog
Order details
| Test number | 8301 |
| Abbreviation | RCND |
| Sample material | 0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT) |
| Test duration | 3-14 working days |
Test specifications
| Symptom complex | neoplastic |
| Inheritance | autosomal dominant |
| Causality | causally |
| Gene | FLCN |
| Mutation | A-G |
| Literature | OMIA:001335-9615 |
Detailed description
A mutation in the BHD gene was found to cause hereditary multifocal renal cystadenocarcinoma and nodular dermatofibrosis (RCND) in the breed German Shepherd. RCND is an autosomal dominant trait and causes bilateral, multifocal tumors in the kidney, uterine leiomyomas in female dogs and nodules in the skin consisting of dense collagen fibres in heterozygous affected dog. This mutation seems to have an embryo-lethal effect on most homozygous affected dogs, so the fetus often dies before birth.
