Severe CNS involvement in WWOX mutations: Description of five new cases

American Journal of Medical Genetics, Part A

Volumn 167, Issue 12, 2015, Pages 3209-3213

  Tabarki, Brahim ^a   Alhashem, Amal ^a   Alshahwan, Saad ^a   Alkuraya, Fowzan S ^b,c   Gedela, Satyanarayana ^d   Zuccoli, Giulio ^e  

^a Prince Sultan Military Medical City   (Saudi Arabia)

^b KING FAISAL SPECIALIST HOSPITAL AND RESEARCH CENTER   (Saudi Arabia)

^c ALFAISAL UNIVERSITY   (Saudi Arabia)

^d OHIO STATE UNIVERSITY   (United States)

^e CHILDREN S HOSPITAL OF PITTSBURGH   (United States)

Author keywords

Epileptic encephalopathy; Microcephaly; Spasticity

Indexed keywords

ARTICLE; BRAIN ATROPHY; CLINICAL ARTICLE; CLINICAL FEATURE; CONSANGUINEOUS MARRIAGE; DEVELOPMENTAL DISORDER; DISEASE SEVERITY; ELECTROENCEPHALOGRAM; FAILURE TO THRIVE; GENE FREQUENCY; GENE MUTATION; GENETIC ALGORITHM; HOMOZYGOTE; HUMAN; INTRACTABLE EPILEPSY; LENNOX GASTAUT SYNDROME; MICROCEPHALY; NEUROIMAGING; PHENOTYPE; PRIORITY JOURNAL; RETINOPATHY; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA SPLICING; SINGLE NUCLEOTIDE POLYMORPHISM; SPASTICITY; THALAMUS NUCLEUS; WHITE MATTER INJURY; WWOX GENE; AICARDI SYNDROME; CASE REPORT; EXOME; FEMALE; GENETICS; INFANT; INFANTILE SPASM; MALE; MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PATHOLOGY; PEDIGREE; PROCEDURES; PROGNOSIS;

OXIDOREDUCTASE; TUMOR SUPPRESSOR PROTEIN; WWOX PROTEIN, HUMAN;

AICARDI SYNDROME; EXOME; FEMALE; HOMOZYGOTE; HUMANS; INFANT; MAGNETIC RESONANCE IMAGING; MALE; MUTATION; NEUROIMAGING; OXIDOREDUCTASES; PEDIGREE; PHENOTYPE; PROGNOSIS; SPASMS, INFANTILE; TUMOR SUPPRESSOR PROTEINS;

EID: 84959338221     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.37363     Document Type: Article

References (17)

1. Alazami AM, Patel N, Shamseldin HE, Anazi S, Al-Dosari MS, Alzahrani F, Hijazi H, Alshammari M, Aldahmesh MA, Salih MA, Faqeih E, Alhashem A, Bashiri FA, Al-Owain M, Kentab AY, Sogaty S, Al Tala S, Temsah MH, Tulbah M, Aljelaify RF, Alshahwan SA, Seidahmed MZ, Alhadid AA, Aldhalaan H, AlQallaf F, Kurdi W, Alfadhel M, Babay Z, Alsogheer M, Kaya N, Al-Hassnan ZN, Abdel-Salam GM, Al-Sannaa N, Al Mutairi F, El Khashab HY, Bohlega S, Jia X, Nguyen HC, Hammami R, Adly N, Mohamed JY, Abdulwahab F, Ibrahim N, Naim EA, Al-Younes B, Meyer BF, Hashem M, Shaheen R, Xiong Y, Abouelhoda M, Aldeeri AA, Monies DM, Alkuraya FS. 2015. Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families. Cell Rep 10:148-161.
2. Abdel-Salam G, Thoenes M, Afifi HH, Körber F, Swan D, Bolz HJ. 2014. The supposed tumor suppressor gene WWOX is mutated in an early lethal microcephaly syndrome with epilepsy, growth retardation and retinal degeneration. Orphanet J Rare Dis 23:9-12.
3. Aldaz CM, Ferguson BW, Abba MC. 2014. WWOX at the crossroads of cancer, metabolic syndrome related traits and CNS pathologies. Biochim Biophys Acta 1846:188-200.
4. Bednarek AK, Laflin KJ, Daniel RL, Liao Q, Hawkins KA, Aldaz CM. 2000. WWOX, a novel WW domain-containing protein mapping to human chromosome 16q23.3-24.1, a region frequently affected in breast cancer. Cancer Res 60:2140-2145.
5. Ben-Salem S, Al-Shamsi AM, John A, Ali BR, Al-Gazali L. 2015. A novel whole exon deletion in WWOX gene causes early epilepsy, intellectual disability and optic atrophy. J Mol Neurosci 56:17-23.
6. Chang NS, Pratt N, Heath J, Schiltz L, Sleve D, Carey GB, Zevotek N. 2001. Hyaluronidase induction of a WW domain containing oxidoreductase that enhances tumor necrosis factor cytotoxicity. J Biol Chem 276:3361-3370.
7. el-Hazmi MA, al-Swailem AR, Warsy AS, al-Swailem AM, Sulaimani R, al-Meshari AA. 1995. Consanguinity among the Saudi Arabian population. J Med Genet 32:623-626.
8. Jenner MW, Leone PE, Walker BA, Ross FM, Johnson DC, Gonzalez D, Chiecchio L, Dachs Cabanas, Nightingale GP, Protheroe M, Stockley RK, Else D, Dickens M, Cross NJ, Davies NC, Morgan FE. 2007. Gene mapping and expression analysis of 16q loss of heterozygosity identifies WWOX and CYLD as being important in determining clinical outcome in multiple myeloma. Blood 110:3291-3300.
9. Mallaret M, Synofzik M, Lee J, Sagum CA, Mahajnah M, Sharkia R, Drouot N, Renaud M, Klein FA, Anheim M, Tranchant C, Mignot C, Mandel JL, Bedford M, Bauer P, Salih MA, Schüle R, Schöls L, Aldaz CM, Koenig M. 2014. The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation. Brain 137:411-419.
10. Mignot C, Lambert L, Pasquier L, Bienvenu T, Delahaye-Duriez A, Keren B, Keren B, Lefranc J, Saunier A, Allou L, Roth V, Valduga M, Moustaïne A, Auvin S, Barrey C, Chantot-Bastaraud S, Lebrun N, Moutard ML, Nougues MC, Vermersch AI, Héron B, Pipiras E, Héron D, Olivier-Faivre L, Guéant JL, Jonveaux P, Philippe C. 2015. WWOX-related encephalopathies: Delineation of the phenotypical spectrum and emerging genotype-phenotype correlation. J Med Genet 52:61-70.
11. Nunez MI, Ludes-Meyers J, Abba MC, Kil H, Abbey NW, Page RE, Klein-Szanto AJ, Godwin AK, Liu J, Mills GB, Aldaz CM. 2005. Frequent loss of WWOX expression in breast cancer: Correlation with estrogen receptor status. Breast Cancer Res Treat 89:99-105.
12. Suzuki H, Katayama K, Takenaka M, Amakasu K, Saito K, Suzuki K. 2009. A spontaneous mutation of the Wwox gene and audiogenic seizures in rats with lethal dwarfism and epilepsy. Genes Brain Behav 8:650-660.
13. Sze CI, Su M, Pugazhenthi S, Jambal P, Hsu LJ, Heath J, Schultz L, Chang NS. 2004. Down-regulation of WW domain-containing oxidoreductase induces Tau phosphorylation in vitro. A potential role in Alzheimer's disease. J Biol Chem 279:30498-30506.
14. Tabarki B, Al-Shafi S, Al-Shahwan S, Azmat Z, Al-Hashem A, Al-Adwani N, Biary N, Al-Zawahmah M, Khan S, Zuccoli G. 2013. Biotin-responsive basal ganglia disease revisited: Clinical, neuroradiological, and genetic findings. Neurology 80:261-267.
15. Tabarki B, Al Mutairi F, Al Hashem A. 2015. The fragile site WWOX gene and the developing brain. Exp Biol Med (Maywood) 240:400-402.
16. Wang HY, Juo LI, Lin YT, Hsiao M, Lin JT, Tsai CH, Tzeng YH, Chuang YC, Chang NS, Yang CN, Lu PJ. 2012. WW domain-containing oxidoreductase promotes neuronal differentiation via negative regulation of glycogen synthase kinase 3ß. Cell Death Differ 19:1049-1059.
17. Zhang P, Jia R, Ying L, Liu B, Qian G, Fan X, Ge S. 2012. WWOX-mediated apopotosis in A549 cells mainly involves the mitochondrial pathway. Mol Med Rep 6:121-124.