Targeted genes under study:
OMIM # *613940, *619578
Abstract
AFG2A and AFG2B function in a complex to promote maturation of the pre-60S ribosomal subunit. Biallelic variants in both genes have been associated with a complex neurodevelopmental disorder with variable other features that may include hearing loss, seizures, and brain abnormalities, while AFG2B has additionally been associated with non-syndromic hearing loss (DFNB119). AFG2A was first described in 2015. Roughly 40 patients with biallelic AFG2A variants have been collectively published. We have collected a new patient cohort of nearly 30 patients so far. AFG2B was described in 2021 through identification of a 47 patient cohort that included 25 with the neurodevelopmental phenotype and 22 with isolated hearing loss. Through a collaborative, multidisciplinary effort, we aim to delineate the natural history and potentially exploring functional studies through identification of additional families. This work is in collaboration with the SPATA Foundation (https://www.spatafoundation.org/).
Coordinating clinicians
Dr. Barbara Vona – barbara.vona@med.uni-goettingen.de
Institutions
Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany
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