Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Severe neonatal-onset encephalopathy with microcephaly

Severe neonatal-onset encephalopathy with microcephaly is an x-linked recessive disorder caused by mutations of the MECP2 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
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
MECP2
Spastic paraplegia 17 with amyotrophy of hands and feet
Susceptibility to glioma
Vascular dementia
X-linked syndromic mental retardation 13

References:

1.

Guerrini R et. al. (1998) Cortical reflex myoclonus in Rett syndrome.

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2.

Wan M et. al. (1999) Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots.

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3.

Villard L et. al. (2000) Two affected boys in a Rett syndrome family: clinical and molecular findings.

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4.

Hoffbuhr K et. al. (2001) MeCP2 mutations in children with and without the phenotype of Rett syndrome.

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5.

Geerdink N et. al. (2002) MECP2 mutation in a boy with severe neonatal encephalopathy: clinical, neuropathological and molecular findings.

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6.

Moog U et. al. (2003) Neurodevelopmental disorders in males related to the gene causing Rett syndrome in females (MECP2).

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7.

Leuzzi V et. al. (2004) Early-onset encephalopathy and cortical myoclonus in a boy with MECP2 gene mutation.

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8.

None (2007) MECP2 mutations in males.

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9.

Schanen NC et. al. (1997) A new Rett syndrome family consistent with X-linked inheritance expands the X chromosome exclusion map.

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10.

Schanen NC et. al. (1998) Neonatal encephalopathy in two boys in families with recurrent Rett syndrome.

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11.

Zeev BB et. al. (2002) Rett syndrome: clinical manifestations in males with MECP2 mutations.

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12.

Kankirawatana P et. al. (2006) Early progressive encephalopathy in boys and MECP2 mutations.

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13.

Schüle B et. al. (2008) Severe congenital encephalopathy caused by MECP2 null mutations in males: central hypoxia and reduced neuronal dendritic structure.

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Update: Sept. 26, 2018