Gene/phenotype/disorder of interest
AIMP2 (OMIM # 618006)
Abstract
AIMP2 encodes a scaffold protein of the multi-tRNA synthetase complex, which is essential for efficient protein translation. Biallelic AIMP2 variants cause hypomyelinating leukodystrophy type 17, an ultra-rare neurodevelopmental disorder that remains poorly characterised.
We are currently assembling an international cohort of 12 affected individuals from 10 families, including four previously reported and eight newly identified cases. Clinical, neuroimaging and molecular data are being collected retrospectively. Core features include severe postnatal microcephaly, profound developmental delay, spasticity, feeding impairment and early-onset seizures. Brain MRI consistently demonstrates diffuse hypomyelination and cerebral atrophy.
This study aims to expand the genotypic and phenotypic spectrum of AIMP2-associated leukodystrophy and provide further insight into its natural history, phenotypic spectrum and genetic counselling. Please get in touch if you have any patients whom you would be interested in contributing to this collaborative study and joint publication.
Coordinating clinicians
- Dr Reza Maroofian; r.maroofian@ucl.ac.uk
- Dr Ali Tavasoli; atavasoli@phoenixchildrens.com
Institutions
- UCL Queen Square Institute of Neurology, London
- Department of Pediatrics, Sanford School of Medicine, University of South Dakota, Sioux Falls, South Dakota, USA
Specific requirements beyond clinical data and genotype data sharing
- Re-analysis of DNA samples: N
- Resampling of patients: N
- Linked to a translational/basic research project? N