Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Hereditary sensory neuropathy type 1E

Hereditary sensory neuropathy type 1E is an autosoal dominant disorder caused by mutations of the DNMT1 gene.

Systematic

Hereditary neurological disorders
Alzheimer disease
Arts syndrome
Autism
Autosomal dominant cerebellar ataxia, deafness and narcolepsy
Autosomal recessive spastic paraplegia type 44
Brain malformations with urinary tract defects
Brain small vessel disease with hemorrhage
Brunner syndrome
Charcot-Marie-Tooth disease
Congenital insensitivity to pain with anhidrosis
Hereditary benign chorea
Hereditary distal motor neuron neuropathy type 5A
Hereditary muscle diseases
Hereditary sensory and autonomic neuropathy type 2A
Hereditary sensory neuropathy type 1E
DNMT1
Hypokalemic periodic paralysis 1
Hypomyelinating Leukodystrophy 2
Idiopathic basal ganglia calcification 1
Intellectual disability-severe speech delay-mild dysmorphism syndrome
Migraine
Nemaline myopathy 5
Porencephaly
Rett syndrome
Severe neonatal-onset encephalopathy with microcephaly
Spastic paraplegia 17 with amyotrophy of hands and feet
Susceptibility to glioma
Vascular dementia
X-linked syndromic mental retardation 13

References:

1.

Wright A et. al. (1995) Hereditary sensory neuropathy with sensorineural deafness and early-onset dementia.

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2.

Hojo K et. al. (1999) Hereditary sensory neuropathy with deafness and dementia: a clinical and neuroimaging study.

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3.

Klein CJ et. al. (2011) Mutations in DNMT1 cause hereditary sensory neuropathy with dementia and hearing loss.

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4.

Klein CJ et. al. (2013) DNMT1 mutation hot spot causes varied phenotypes of HSAN1 with dementia and hearing loss.

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Update: Sept. 26, 2018