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286 Possible Causes for Mutation in the MECP2 Gene, Mutation in the WWOX Gene

  • 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] Leuzzi V et. al. (2004) Early-onset encephalopathy and cortical myoclonus in a boy with MECP2 gene mutation. [ ] 8. None (2007) MECP2 mutations in males. [ ] 9.[moldiag.com] The MECP2 gene is mutated in Rett syndrome (RTT; 312750), a severe neurodevelopmental disorder that almost always occurs in females.[ncbi.nlm.nih.gov]

  • Rett Syndrome

    Mutations in the MECP2 gene on chromosome Xq28 have been shown to be the cause of RTT.[ncbi.nlm.nih.gov] Mutation analysis of the MECP2 gene in the affected patient revealed a 423 C-- G substitution in exon 4, resulting in a new stop codon (Y141 X).[ncbi.nlm.nih.gov] It is caused mainly by mutations in the MECP2 gene. In this study, we reported mutations in the MECP2 gene in 7 Tunisian patients with classic Rett syndrome.[ncbi.nlm.nih.gov]

    Missing: Mutation in the WWOX Gene
  • 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] .: Mutation analysis in the MECP2 gene and genetic counselling for Rett syndrome. J. Med. Genet. 40: 380-384, 2003. 4. Kalscheuer, V.[genome.jp] […] in STK9 / CDKL5 and MECP2 ) is unlikely, since it is usually associated with lethality in males. 2) Compensatory factors may exist in males; in particular, a protocadherin[journals.plos.org]

  • 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] , VLDLR, WDR81 Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) Sanger Sequencing of the NOTCH3 gene Cerebral arteriopathy with subcortical[pentacorelab.hu] […] infarcts and leukoencephalopathy (CADASIL) Mutations in exons 2, 3 and 4 of the NOTCH3 gene Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL[pentacorelab.hu]

  • Early Infantile Epileptic Encephalopathy Type 28

    Homozygous and compound heterozygous mutations in the WWOX gene (16q23) have been found in several families.[disorders.eyes.arizona.edu] […] in the PHACTR1 gene.[ncbi.nlm.nih.gov] Homozygous mutations involving the WWOX gene were found on whole exome sequencing in both cases (deletion affecting exons 3 to 4 in case one, and splice-site mutation c.606[omicsonline.org]

  • Toxoplasmosis

    Angelman syndrome due to a novel splicing mutation of the UBE3A gene. J Child Neurol 23 , 912–915, doi: 10.1177/0883073808316367 (2008). 83. Samaco, R.[nature.com] Epigenetic overlap in autism-spectrum neurodevelopmental disorders: MECP2 deficiency causes reduced expression of UBE3A and GABRB3.[nature.com]

    Missing: Mutation in the WWOX Gene
  • Growth Failure

    Mutation analysis of the methyl-CpG-binding protein 2 gene (MECP2) in Rett patients with preserved speech. Brain Dev 2001;23 (Suppl 1):S157-60. 5.[mjdrdypu.org]

    Missing: Mutation in the WWOX Gene
  • Sick Sinus Syndrome

    Rett syndrome is a neurodevelopmental disorder caused by mutations in the MECP2 gene, which encodes methyl-CpG-binding protein 2 (MECP2).[ncbi.nlm.nih.gov] However, an increasing number of male patients with MECP2 mutations have been reported, including patients who suddenly died of unknown causes.[ncbi.nlm.nih.gov]

    Missing: Mutation in the WWOX Gene
  • Waisman Syndrome

    There are more than 200 different mutations found in the MECP2 gene.[waisman.wisc.edu] Rett syndrome (RTT) is a debilitating neurodevelopmental disorder caused by mutations in the MECP2 gene.[ncbi.nlm.nih.gov] About 95 percent of patients diagnosed with Rett syndrome carry a mutation in the MECP2 gene, Chang said.[badgerherald.com]

    Missing: Mutation in the WWOX Gene
  • Lethal Neonatal Spasticity - Epileptic Encephalopathy

    Homozygous and compound heterozygous mutations in the WWOX gene (16q23) have been found in several families.[disorders.eyes.arizona.edu] […] in the mecp2 gene on chromosome x.[icd10data.com] The MECP2 gene is mutated in Rett syndrome, a severe neurodevelopmental disorder that almost always occurs in females.[nectarmutation.org]

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