Abstract
Mitogen-activated protein kinase 8-interacting protein 3 gene (MAPK8IP3) encodes the c-Jun-amino-terminal kinase-interacting protein 3 (JIP3) and is involved in retrograde axonal transport. Heterozygous de novo pathogenic variants in MAPK8IP3 result in a neurodevelopmental disorder with or without brain abnormalities and possible axonal peripheral neuropathy. Whole-exome sequencing was performed on an individual presenting with severe congenital muscle hypotonia of neuronal origin mimicking lethal spinal muscular atrophy. Compound heterozygous rare variants (a splice and a missense) were detected in MAPK8IP3, inherited from the healthy parents. Western blot analysis in a muscle biopsy sample showed a more than 60% decrease in JIP3 expression. Here, we suggest a novel autosomal recessive phenotype of a lower motor neuron disease caused by JIP3 deficiency.
Original language | English |
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Pages (from-to) | 2428-2432 |
Number of pages | 5 |
Journal | American Journal of Medical Genetics, Part A |
Volume | 191 |
Issue number | 9 |
DOIs | |
State | Published - Sep 2023 |
Externally published | Yes |
Keywords
- autosomal recessive
- JIP3 deficiency
- lower motor neuron disease
- MAPK8IP3