Compound heterozygous variants in MAPK8IP3 were detected in severe congenital hypotonia mimicking lethal spinal muscular atrophy

Judit Kárteszi, Alban Ziegler, Mariann Tihanyi, Beatrix Elmont, Yuebo Zhang, Barbara Patócs, Mária Judit Molnár, Gábor Méhes, Kirsty Wells, Rita Jakus, Beáta Bessenyei, Wasantha Ranatunga, Éva Morava

Research output: Contribution to journalArticlepeer-review

1 Scopus citations

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 languageEnglish
Pages (from-to)2428-2432
Number of pages5
JournalAmerican Journal of Medical Genetics, Part A
Volume191
Issue number9
DOIs
StatePublished - Sep 2023
Externally publishedYes

Keywords

  • autosomal recessive
  • JIP3 deficiency
  • lower motor neuron disease
  • MAPK8IP3

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