Hereditary motor and sensory neuropathy with agenesis of the corpus callosum.
Hereditary motor and sensory neuropathy associated with agenesis of the corpus callosum (OMIM 218000) is an autosomal recessive disease of early onset characterized by a delay in developmental milestones, a severe sensory-motor polyneuropathy with areflexia, a variable degree of agenesis of the corpus callosum, amyotrophy, hypotonia, and cognitive impairment. Although this disorder has rarely been reported worldwide, it has a high prevalence in the Saguenay-Lac-St-Jean region of the province of Quebec (Canada) predominantly because of a founder effect. The gene defect responsible for this disorder recently has been identified, and it is a protein-truncating mutation in the SLC12A6 gene, which codes for a cotransporter protein known as KCC3. Herein, we provide the first extensive review of this disorder, covering epidemiological, clinical, and molecular genetic studies.
Dupré
Nicolas
N
Centre for Research in Neurosciences and the Department of Neurology and Neurosurgery, McGill University, Montreal.
Howard
Heidi C
HC
Mathieu
Jean
J
Karpati
George
G
Vanasse
Michel
M
Bouchard
Jean-Pierre
JP
Carpenter
Stirling
S
Rouleau
Guy A
GA
D000293:Adolescent; D000328:Adult; D061085:Agenesis of Corpus Callosum; D001284:Atrophy / Q000473:pathology; D020968:Brachial Plexus Neuritis / Q000453:epidemiology; D001921:Brain / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D003072:Cognition Disorders / Q000453:epidemiology; D015897:Comorbidity; D004576:Electromyography; D005091:Exons / Q000235:genetics; D005260:Female; D017353:Gene Deletion; D005838:Genotype; D015417:Hereditary Sensory and Motor Neuropathy / Q000453:epidemiology / Q000235:genetics* / Q000503:physiopathology; D006720:Homozygote; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging; D008297:Male; D008475:Median Nerve / Q000503:physiopathology; D009123:Muscle Hypotonia / Q000453:epidemiology; D009431:Neural Conduction / Q000502:physiology; D017354:Point Mutation / Q000235:genetics; D011792:Quebec / Q000453:epidemiology; D012021:Reflex, Abnormal / Q000502:physiology; D027981:Symporters / Q000235:genetics; D000096922:K Cl- Cotransporters
D027981:Symporters; C119650:SLC12A6 protein, human; D000096922:K Cl- Cotransporters