Gene/phenotype/disorder under study
OMIM #*614799, *613362
Abstract
Following our previous call for collaboration on AFG2A and AFG2B, we have identified a functional complex (55LCC) involving two additional proteins, AIRIM and CINP. Our recent study (PMID: 40760247) established AIRIM (alias: C1orf109) as an autosomal recessive disease-associated gene, and we are now seeking additional families with variants in AIRIM to further delineate the clinical and molecular spectrum. CINP is a novel and compelling autosomal recessive candidate given its interaction within the 55LCC complex, where variants in the other three genes lead to similar phenotypes. We have collected a series of CINP patients and would welcome more for our gene discovery paper. We invite clinicians and researchers to share relevant cases and data to support collaborative functional and clinical studies.
Coordinating team
Dr. Barbara Vona – barbara.vona@med.uni-goettingen.de
Dr. Reza Maroofian – r.maroofian@ucl.ac.uk
Institution
Institute for Auditory Neuroscience, University Medical Center Göttingen, Göttingen, Germany/Department of Neuromuscular Diseases, UCL Queen Square, Institute of Neurology, London, UK
Specific requirements beyond clinical data and genotype data sharing:
1- Re-analysis of DNA samples: No
2- Resampling of patients: No or in a follow-up step
3- Linked to a translational/basic research project: Yes