Targeted gene under study:
MAPKBP1 (OMIM #616786 – 617271)
Abstract
Biallelic pathogenic variants in MAPKBP1 have been recently associated with “NEPHRONOPHTHISIS 20” (NPHP20; MIM #617271), a rare autosomal recessive condition characterized by a fast progression to ESRD already in young adulthood. It is generally considered a non-syndromic nephronophthisis affecting only the kidney; the OMIM Clinical Synopsis states that “Patients do not have extra-renal manifestations”. However, some recent case reports showed the presence of skeletal features, mainly scoliosis and long fingers, and vascular abnormalities; scoliosis has been reported in 8 patients so far and is usually described as moderate-severe. Our clinical experience reflects this impression, so we decided to gather clinical and molecular data of patients with MAPKBP1 biallelic variants AND extra-renal manifestations. In order to support a valid phenotype expansion, all other possible genetic causes of extra-renal issues have to be excluded (e.g. connective tissues diseases like EDS).
Coordinating clinician
Dr Enrico Ambrosini (clinical geneticist) – enrico.ambrosini@unipr.it
Institutions
Medical Genetics Unit, University Hospital of Parma, Parma
Specific requirements beyond clinical data and genotype data sharing:
1- Re-analysis of DNA samples: No
2- Resampling of patients: No
3- Linked to a translational/basic research project: No