Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Hypomyelinating Leukodystrophy 2

Hypomyelinating Leukodystrophy 2 is an autosomal recessive neurological disorder caused by mutations of the GJC2 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
Hypokalemic periodic paralysis 1
Hypomyelinating Leukodystrophy 2
GJC2
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.

Uhlenberg B et al. (2004) Mutations in the gene encoding gap junction protein alpha 12 (connexin 46.6) cause Pelizaeus-Merzbacher-like disease.

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2.

Wolf NI et al. (2007) Frameshift mutation in GJA12 leading to nystagmus, spastic ataxia and CNS dys-/demyelination.

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3.

Salviati L et al. (2007) A novel deletion in the GJA12 gene causes Pelizaeus-Merzbacher-like disease.

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4.

Henneke M et al. (2008) GJA12 mutations are a rare cause of Pelizaeus-Merzbacher-like disease.

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5.

Biancheri R et al. (2013) Expanded spectrum of Pelizaeus-Merzbacher-like disease: literature revision and description of a novel GJC2 mutation in an unusually severe form.

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6.

Gotoh L et al. (2014) GJC2 promoter mutations causing Pelizaeus-Merzbacher-like disease.

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7.

Bugiani M et al. (2006) GJA12 mutations in children with recessive hypomyelinating leukoencephalopathy.

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8.

Henneke M et al. (2010) Clinical neurophysiology in GJA12-related hypomyelination vs Pelizaeus-Merzbacher disease.

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9.

Orphanet article

Orphanet ID 280282 [^]
10.

OMIM.ORG article

Omim 608804 [^]
Update: April 29, 2019