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176 Possible Causes for Mutation in the WWOX Gene, Premature Death May Occur

  • 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] 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] He was diagnosed last november with a rare mutation in the WWOX gene causing him to have EIEE28, early infantile epileptic encephalopathy.[medhelp.org]

  • Thrombocytopenia

    Perinatal deaths may occur from placental abruption, asphyxia, and extreme prematurity.[emedicine.medscape.com] Thrombocytopenia is usually moderate, with counts rarely Major hemorrhage is uncommon, but incisional site oozing or subcutaneous hematomas may occur.[emedicine.medscape.com]

    Missing: Mutation in the WWOX Gene
  • Diabetes Mellitus

    Heart attack, stroke and kidney disease can result in premature death. Disability due to blindness, amputation, heart disease, stroke and nerve damage may occur.[drugs.com]

    Missing: Mutation in the WWOX Gene
  • Cardiac Arrhythmia

    Sudden cardiac death can occur in patients with polymorphous ventricular tachycardia who have normal QT intervals and normal systolic cardiac function; closely coupled premature[doi.org] […] ventricular tachycardia apparently have a favorable response to β-blockade therapy, whereas those with idiopathic ventricular fibrillation or short coupled torsade de pointes may[doi.org]

    Missing: Mutation in the WWOX Gene
  • Hypercholesterolemia

    […] develop CHD before age 30 years; however, death may occur as early as the first years of life from severe CHD if left untreated. 3 The greatly increased lifetime risk of[pharmacytimes.com] premature CHD in HoFH makes early initiation of cholesterol-lowering therapies paramount.[pharmacytimes.com] […] to occur in 1 of every 1 million persons with average cholesterol levels of 650 to 1000 mg/dL. 3 Xanthomas and arcus cornea appear in early childhood. 1 Affected subjects may[pharmacytimes.com]

    Missing: Mutation in the WWOX Gene
  • Diabetes Mellitus Type 2

    Heart attack, stroke and kidney disease can result in premature death. Disability due to blindness, amputation, heart disease, stroke and nerve damage may occur.[drugs.com]

    Missing: Mutation in the WWOX Gene
  • Hypertrophic Cardiomyopathy

    Sudden death from heart arrhythmias, often during exercise, occurs in about 1% of affected people.[cidg.org.nz] Sometimes the muscle thickening can obstruct the bloodflow out of the heart and corrective surgery may be necessary.[cidg.org.nz] Features such as a family history of premature death, excessive thickness of the interventricular septum and asymptomatic ventricular arrhythmias identify a subset at higher[cidg.org.nz]

    Missing: Mutation in the WWOX Gene
  • Arteriosclerosis

    Diseases that may follow or occur with arteriosclerosis include kidney disease, high blood pressure, uremia, apoplexy, premature senility, angina pectoris, coronary heart[academic.oup.com] Hardening of the arteries (arteriosclerosis or atherosclerosis), involving principally the vessels of the brain, heart and kidneys, is a major cause of disability or death[academic.oup.com]

    Missing: Mutation in the WWOX Gene
  • 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: Premature Death May Occur
  • Hyperthyroidism

    Death occurs in as many as 16 percent of these babies, and other complications from which survivors may suffer include craniosynostosis (early closure of the sutures of the[encyclopedia.com] Babies with neonatal Graves' disease may suffer from prematurity , airway obstruction, and heart failure.[encyclopedia.com]

    Missing: Mutation in the WWOX Gene

Further symptoms