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
	Ataxia-pancytopenia 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
	Epilepsy syndrome
	Hereditary benign chorea
	Hereditary brain tumors
	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
	Tuberous sclerosis complex
	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.

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

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

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

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.

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

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

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

9.	Orphanet article Orphanet ID 280282

10.	OMIM.ORG article Omim 608804

Update: June 23, 2025

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