Hereditary Neuropathy_CMT - isolated

Gene: CHCHD10

Green List (high evidence)

The Jokela type of spinal muscular atrophy (SMAJ) is an autosomal dominant lower motor neuron disorder characterized by adult-onset of muscle cramps and fasciculations affecting the proximal and distal muscles of the upper and lower limbs. The disorder is slowly progressive, resulting in weakness and mild muscle atrophy later in life.

Founder Finnish variant, p.Gly66Val reported in 17 Finnish families. Additional reports of same variant in Finnish families with CMT2 phenotype.

Note other variants in this gene are associated with diverse neurological phenotypes, including ALS and myopathy.

Created: 3 May 2021, 7:54 a.m. | Last Modified: 3 May 2021, 7:54 a.m.

Panel Version: 0.79

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Spinal muscular atrophy, Jokela type, MIM# 615048; CMT2

Publications

• 22535186
• 27066538

PMID: 31261376 - Xiao - functional studies on CHCHD10. They find that it is highly expressed at the postsynapse of neuromuscular junctions (NMJ) in skeletal muscles. Knockout of CHCHD10 in mice resulted in motor defects, abnormal neuromuscular transmission and NMJ structure. They report that mitochondrial CHCHD10 is required for ATP production at NMJs by promoting AChRs gene expression.

Created: 1 Sep 2020, 1:31 p.m. | Last Modified: 1 Sep 2020, 1:31 p.m.

Panel Version: 0.4091

Publications

• 31261376