AS may also occur in the Roma population with a new mutation being found: frameshift mutation c.2604delT in the exon 20 of the SLC12A6 gene. Roma patients with probable AS should be primarily tested for this mutation.
we present the first Mexican patients with hereditary motor and sensory neuropathy with agenesis of the corpus callosum and a novel heterozygous frameshift variant c.2097du p or p.(Trp700Leufs*19) of the SLC12A6 gene
Neurodegenerative deficits in hereditary motor and sensory neuropathy associated with agenesis of the corpus callosum are primarily caused by an axonopathy superimposed upon abnormal development affecting peripheral but also central nervous system axons all ultimately because of a genetic defect in the axonal cotransporter KCC3.
Neuropathic features of hereditary motor and sensory neuropathy/agenesis of corpus callosum in transgenic mouse lines are predominantly due to a neuronal KCC3 deficit while the auditory impairment is due to loss of non-neuronal KCC3 expression.
The Wnk3 protein isoforms have a similar effect on SLC12 cotransporters. NKCC1/2 and NCC were inhibited even in hypertonicity while KCCs were activated even in isotonic conditions.
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