Article
Compound heterozygous variants in MAPK8IP3 were detected in severe congenital hypotonia mimicking lethal spinal muscular atrophy.
American journal of medical genetics. Part A - 1 Sept 2023
Kárteszi Judit, Ziegler Alban, Tihanyi Mariann, Elmont Beatrix, Zhang Yuebo, Patócs Barbara, Molnár Mária Judit, Méhes Gábor, Wells Kirsty, Jakus Rita, Bessenyei Beáta, Ranatunga Wasantha, Morava Éva
Abstract excerpt
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...
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