98P Biallelic pathogenic PLEKHG5 variants in a girl with childhood-onset lower motor neuron disease
The PLEKHG5 gene encodes a protein that induces the nuclear factor kappa B (NFjB) signaling pathway. Biallelic pathogenic variants in PLEKHG5 have been linked to distal spinal muscular atrophy IV and intermediate axonal neuropathy. We present a six-year-old girl complaining of difficulties climbing...
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| Published in: | Neuromuscular disorders : NMD Vol. 43; p. 104441 |
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| Main Authors: | , , , |
| Format: | Journal Article |
| Language: | English |
| Published: |
Elsevier B.V
01-10-2024
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| Online Access: | Get full text |
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| Summary: | The PLEKHG5 gene encodes a protein that induces the nuclear factor kappa B (NFjB) signaling pathway. Biallelic pathogenic variants in PLEKHG5 have been linked to distal spinal muscular atrophy IV and intermediate axonal neuropathy. We present a six-year-old girl complaining of difficulties climbing stairs and getting up from crouching. Neurological examination revealed a symmetrical proximal limb weakness with milder distal weakness. While the patellar reflexes were absent, the biceps reflexes were hyporeflexic. Electromyography showed a mild denervation pattern in the proximal muscle groups with normal nerve conduction studies. MLPA in SMN1 showed no abnormalities. Exome sequencing revealed a homozygous missense variant in PLEKHG5 (c.1399G>A: NM_020631.4 [p.Glu467Lys]). Their unaffected mother and father were both carriers. |
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| ISSN: | 0960-8966 |
| DOI: | 10.1016/j.nmd.2024.07.577 |