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98 Possible Causes for Lack of Visual Contact, Mutation in the WWOX Gene

  • 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] Infants do not make eye contact and they may lack the usual visual responses to environmental stimuli.[disorders.eyes.arizona.edu] 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]

  • 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: Lack of Visual Contact
  • 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: Lack of Visual Contact
  • 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: Lack of Visual Contact
  • Autistic Disorder

    In some infants, there are early signs of the disorder, such as not wanting to cuddle, lack of eye contact, or abnormal responses to touching and affection.[todaysdietitian.com] Other early signs include the inability to follow objects visually, not responding to his or her name being called, and lack of facial expressions, such as smiling.3 Some[todaysdietitian.com]

    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] 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: Lack of Visual Contact
  • 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: Lack of Visual Contact
  • Disorganized Schizophrenia

    […] of eye contact, a blank facial expression, and little body language Delusions Auditory or visual hallucinations Strange posture Social withdrawal Grimacing expression Clumsiness[futuresofpalmbeach.com] Disorganized behavior, including an inability to appropriately take care of personal hygiene, dress oneself, or prepare meals Inappropriate or no emotional expression, including a lack[futuresofpalmbeach.com]

    Missing: 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]

    Missing: Lack of Visual Contact
  • 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: Lack of Visual Contact

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