Gene/phenotype/disorder under study
Gene AIMP1 (OMIM: #603605); Hypomyelinating leukodystrophy (HLD3), autosomal recessive (OMIM: #260600)
Abstract
AIMP1 encodes aminoacyl tRNA synthetase complex-interacting multifunctional protein 1, a pleiotropic polypeptide with tRNA-binding capacity and cytokine-like inflammatory activity. As a key non-catalytic component of the multi-tRNA synthetase complex (MSC), also known as p43, it is widely expressed in the central nervous system, where it supports neurofilament assembly as well as axonal development and maintenance.
Bi-allelic variants in the AIMP1 gene have been associated with hypomyelinating leukodystrophy-3 (HLD3), an autosomal recessive disorder characterised by early infantile onset of global developmental delay, microcephaly, and spasticity associated with hypomyelination on brain MRI.
We are seeking genetic and clinical data from patients with bi-allelic AIMP1 variants to support a more comprehensive characterisation of the genetic and phenotypic spectrum of AIMP1-related hypomyelinating leukodystrophy within an international cohort.
Coordinating team
Dr Reza Maroofian – r.maroofian@ucl.ac.uk
Kristina Zhelcheska – kristina.zhelcheska.20@ucl.ac.uk
Dr Karen Gunanayagam – k.gunanayagam@ucl.ac.uk
Institution
Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom
Specific requirements beyond clinical data and genotype data sharing:
1- Re-analysis of DNA samples: No
2- Resampling of patients: Yes
3- Linked to a translational/basic research project: Yes