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Table 1 Clinical phenotypes in patients with Homozygous WWOX gene mutation

From: W44X mutation in the WWOX gene causes intractable seizures and developmental delay: a case report

  Our study Mylene valduga et al. [12]a Ben Salem et al. [9] Mignot et al. [11] Abdel-Salam et al. [8] Mallaret et al. [10]
No of Families 1 1 1 4 1 2
No of pts 2 2 1 5 1 4
Gender 2F 1F-1M 1M 4F-1M F 3F-1M
Consanguinity + + + - + +
Ethnicity Qatari Turkish Emirati NA Egyptian Saudi-Palestinian
Acquired microcephaly - + + (3/5 - ) (2/5 +)b + NA
Neonatal hypotonia - - + + + NA
Psychomotor delay + + + + + +
Cerebellar ataxia - - - - - +
Spasticity + + + 3/5 (-), 2/5 (+) + -
DTR Exaggerated Exaggerated Exaggerated 3/5 Normal, 2/5 exaggeratedc Exaggerated Diminished
Ophthalmological involvement + + + 3+, 2- + +
Age of onset of epilepsy 2 month 3 month 2 weeks Between <2m and 5m Yes (2 month) (9–12 m)
Seizure type Myoclonic seizure Infantile spasm Infantile spasm Focal and generalized tonic clonic and myoclonic Focal and generalized tonic clonic and myoclonic Generalized tonic-clonic
Response to antiepileptics Partial Partial Yes Partial Partial Yes (2/4), partial (2/4)
Brain MRI Brain atrophy. Brain atrophy. Brain atrophy and polymicrogyria on the right frontoparietal region Brain atrophy, 2 Normald Brain atrophy Posterior white matter hyperintensities
Premature death - + - 2 (+)-3(-) + -
  1. F female, M male, No number, pts patients, DTR deep tendon reflexes, NA not applicable
  2. aThe case diagnosed prenatally was not included in the table as the comparison points are not applicable
  3. b3/ 5 cases did not have microcephaly, while 2/5 cases have microcephaly
  4. c2/5 spastic and 3/5 normal tone. The deep tendon reflex was normal in 3/5 while exaggerated in 2/5
  5. d2 cases had normal MRI