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24 Possible Causes for Mutation in the WWOX Gene, Severe Neonatal Encephalopathy

  • Severe Neonatal-Onset Encephalopathy with Microcephaly

    Homozygous and compound heterozygous mutations in the WWOX gene (16q23) have been found in several families.[disorders.eyes.arizona.edu] Severe neonatal-onset encephalopathy with microcephaly is an x-linked recessive disorder caused by mutations of the MECP2 gene. b' ' Systematic References: 1.[moldiag.com] Most males with MECP2-related severe neonatal encephalopathy do not live past the age of 2 because of respiratory failure.MECP2-related severe neonatal encephalopathy is the[ncbi.nlm.nih.gov]

  • Early Infantile Epileptic Encephalopathy Type 2

    Homozygous and compound heterozygous mutations in the WWOX gene (16q23) have been found in several families.[disorders.eyes.arizona.edu] Early-infantile epileptic encephalopathy (EIEE) with suppression-bursts is a severe neonatal epileptic encephalopathy.[ncbi.nlm.nih.gov] Here we described mitochondrial dysfunctions in a very severe, intractable and relatively rare neonatal epileptic encephalopathy, the Ohtahara syndrome.[oadoi.org]

  • Familial Infantile Myoclonic Epilepsy

    The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation. Brain. 2014;137:411–9.[genomemedicine.biomedcentral.com] , was initially identified in a severe neonatal epileptic encephalopathy sometimes referred to as De Vivo syndrome [De Vivo et al., 1991].[karger.com] , Neonatal Severe, Due To MECP2 Mutations 300673 Genetic Test Registry Epilepsy, Childhood Absence, Susceptibility To, 5 ECA5 612269 Genetic Test Registry Epilepsy, Familial[ukgtn.nhs.uk]

  • Ataxia

    The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation.[ncbi.nlm.nih.gov] GABA-transaminase deficiency is associated with a severe neonatal-infantile epileptic encephalopathy.[doi.org]

  • Dursun Syndrome

    WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation.[genome.jp] , neonatal severe 300673 Mental retardation, X-linked syndromic, Lubs type 300260 Mental retardation, X-linked, syndromic 13 300055 Rett syndrome 312750 Rett syndrome, preserved[institutobernabeu.com] Drouot N, Renaud M, Klein FA, Anheim M, Tranchant C, Mignot C, Mandel JL, Bedford M, Bauer P, Salih MA, Schule R, Schols L, Aldaz CM, Koenig M タイトル The tumour suppressor gene[genome.jp]

  • Myelocerebellar Disorder

    WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation.[genome.jp] […] and intellectual disabilities-sensorineural deafness-dystonia syndrome Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion Severe neonatal-onset[se-atlas.de] Drouot N, Renaud M, Klein FA, Anheim M, Tranchant C, Mignot C, Mandel JL, Bedford M, Bauer P, Salih MA, Schule R, Schols L, Aldaz CM, Koenig M タイトル The tumour suppressor gene[genome.jp]

  • Growth Retardation

    By whole-exome sequencing, we identified a homozygous WWOX nonsense mutation, p.Arg54*, in a girl from a consanguineous family with a severe syndrome of growth retardation[ncbi.nlm.nih.gov] Several recently discovered mutations in the gene can cause variable phenotypes ranging from neonatal GRACILE-like hepatopathy and tubulopathy to those presenting during infancy[orpha.net] It is therefore considered a tumor suppressor gene, but its direct implication in cancerogenesis remains controversial.[ncbi.nlm.nih.gov]

  • Autosomal Recessive Spastic Paraplegia Type 14

    Koenig, The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation. Brain, 2014. 137(Pt 2): p. 411-9.[hih-tuebingen.de] Genetic testing - MECP2 Duplication (See related severe neonatal encephalopathy MECP2). Genetic testing - MECP2-related severe neonatal encephalopathy - MECP2 gene.[ivami.com] neonatal-onset encephalopathy with microcephaly Severe obesity Severe obesity and type 2 diabetes Short QT syndrome Short QT syndrome 1 Short QT syndrome 2 Short QT syndrome[moldiag.com]

  • Autosomal Recessive Spastic Ataxia Type 2

    Koenig, The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation. Brain, 2014. 137(Pt 2): p. 411-9.[hih-tuebingen.de] […] c oxidase deficiency COX10 Encephalopathy neonatal severe MECP2 Encephalopathy thiamine-responsive SLC19A3 Encephalopathy, familial, with neuroserpin inclusion bodies SERPINI1[centogene.com] encephalopathy-progressive cerebral atrophy syndrome Cowden syndrome Craniorachischisis Diffuse cutaneous systemic sclerosis Distal hereditary motor neuropathy type 5 Estrogen[csbg.cnb.csic.es]

  • Autosomal Recessive Spastic Ataxia with Leukoencephalopathy

    Koenig, The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation. Brain, 2014. 137(Pt 2): p. 411-9.[hih-tuebingen.de] […] tubulopathy due to cytochrome c oxidase deficiency Encephalopathy neonatal severe Encephalopathy thiamine-responsive Encephalopathy, familial, with neuroserpin inclusion bodies[qlinics.com] The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation. Brain. 2014;137:411–9.[link.springer.com]

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