Dear ERKNet Member,
Our colleagues from Berlin Charité are kindly asking you for your help regarding the identification of patients with biallelic variants in BCS1L (https://www.omim.org/entry/603647?search=BCS1L&highlight=bcs1l).
Biallelic mutations in BCS1L are causally related with a mitochondrial disease (Complex III deficiency) that has various renal and extrarenal manifestations. On the kidney level, it primarily leads to Fanconi syndrome, RTA, and nephrocalcinosis.
On the basis of our index case, we initiated functional characterization by means of huREC-based assays including mito-stress. For further clinical comparison, we would love to include more cases suffering from this ultra-rare disease.
We kindly request your assistance by letting us know, if you have identified patients with this disorder at your institution. Please provide your contact details below. The team from Berlin Charité will get in touch with you directly
As ethical approval is an important factor, only patients with signed informed consent are eligible for the survey. Contribution of additional cases with clinical data will be acknowledged by co-authorship.
Thank you very much for your support!
Best wishes,
Your ERKNet team
on behalf of Jan Halbritter and team, Berlin Charité
***This study is supported by the ERKNet WG on Metabolic Disorders***
Your ERKNet team
on behalf of Jan Halbritter and team, Berlin Charité
***This study is supported by the ERKNet WG on Metabolic Disorders***