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66 Possible Causes for MECP2 Mutations Are Those Found in Females with Rett Syndrome, 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] The supposed tumor suppressor gene WWOX is mutated in an early lethal microcephaly syndrome with epilepsy, growth retardation and retinal degeneration.[disorders.eyes.arizona.edu] Among the limited number of patients reported, at least two with compound heterozygous mutations had normal brain imaging, appropriate visual responses, and some ability to[disorders.eyes.arizona.edu]

  • Spinocerebellar Ataxia Type 14

    Mutation in the WWOX gene, D. schematic of the WWOX gene). Figure adapted from WWOX.[epilepsygenetics.net] Performing exome sequencing in the younger sister, the authors identified 16 genes with functionally relevant homozygous mutation and focused on the WWOX gene, coding for[epilepsygenetics.net] When I first learned about WWOX, I was not aware of the second publication describing mutations in this gene in spinocerebellar ataxia, and I am happy that I looked this up[epilepsygenetics.net]

    Missing: MECP2 Mutations Are Those Found in Females with Rett Syndrome
  • Epithelial Ovarian Cancer

    TP53 and PTEN are among the best known tumor suppressor genes involved in EOC pathogenesis, but mutations have also been found in genes OPCML and WWOX, among others.[symptoma.com]

    Missing: MECP2 Mutations Are Those Found in Females with Rett Syndrome
  • Malignant Ovarian Neoplasm

    […] of the RNF6 gene in human esophageal squamous cell carcinoma. 8 71 12154016 2002 2 Genetic alterations of the tumor suppressor gene WWOX in esophageal squamous cell carcinoma[malacards.org] […] tissues related to Esophageal Cancer: 19 Esophagus Articles related to Esophageal Cancer: (show top 50) (show all 21538) # Title Authors PMID Year 1 Identification of somatic mutations[malacards.org]

    Missing: MECP2 Mutations Are Those Found in Females with Rett Syndrome
  • 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] The supposed tumor suppressor gene WWOX is mutated in an early lethal microcephaly syndrome with epilepsy, growth retardation and retinal degeneration.[disorders.eyes.arizona.edu] Among the limited number of patients reported, at least two with compound heterozygous mutations had normal brain imaging, appropriate visual responses, and some ability to[disorders.eyes.arizona.edu]

    Missing: MECP2 Mutations Are Those Found in Females with Rett Syndrome
  • 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] The supposed tumor suppressor gene WWOX is mutated in an early lethal microcephaly syndrome with epilepsy, growth retardation and retinal degeneration.[genomemedicine.biomedcentral.com]

    Missing: MECP2 Mutations Are Those Found in Females with Rett Syndrome
  • Autosomal Recessive Spinocerebellar Ataxia 8

    Mutation in the WWOX gene, D. schematic of the WWOX gene). Figure adapted from WWOX.[epilepsygenetics.net] WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation.[genome.jp] Performing exome sequencing in the younger sister, the authors identified 16 genes with functionally relevant homozygous mutation and focused on the WWOX gene, coding for[epilepsygenetics.net]

    Missing: MECP2 Mutations Are Those Found in Females with Rett Syndrome
  • Esophageal Carcinoma

    Copy-number analysis revealed higher rates of deletions of putative fragile site genes FHIT or WWOX, suggestive of differences in the underlying genomic instability between[nature.com] EACs had higher rates of mutation of SMARCA4 and deletion of tumour suppressor RUNX1, but lower APC mutation rates relative to gastric tumours, suggesting a less prominent[nature.com]

    Missing: MECP2 Mutations Are Those Found in Females with Rett Syndrome
  • Primary Effusion Lymphoma

    In PEL the p53 and PTEN genes are rarely mutated. P53 mutations accumulate after chemotherapy ( Petre et al., 2007 ; Chen et al., 2010 ).[journal.frontiersin.org] FHIT and WWOX, two fragile site tumor suppressor genes, are deleted in many PEL cell lines ( Roy et al., 2011 ), however these and other genome-wide association studies are[journal.frontiersin.org]

    Missing: MECP2 Mutations Are Those Found in Females with Rett Syndrome
  • Spinocerebellar Ataxia Type 12

    Mutation in the WWOX gene, D. schematic of the WWOX gene). Figure adapted from WWOX.[epilepsygenetics.net] Performing exome sequencing in the younger sister, the authors identified 16 genes with functionally relevant homozygous mutation and focused on the WWOX gene, coding for[epilepsygenetics.net] When I first learned about WWOX, I was not aware of the second publication describing mutations in this gene in spinocerebellar ataxia, and I am happy that I looked this up[epilepsygenetics.net]

    Missing: MECP2 Mutations Are Those Found in Females with Rett Syndrome

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