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

BMC Medical Genetics

Table 1 Clinical phenotypes in patients with Homozygous WWOX gene mutation

	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 exaggerated^c	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 Normal^d	Brain atrophy	Posterior white matter hyperintensities
Premature death	-	+	-	2 (+)-3(-)	+	-

F female, M male, No number, pts patients, DTR deep tendon reflexes, NA not applicable
^aThe case diagnosed prenatally was not included in the table as the comparison points are not applicable
^b3/ 5 cases did not have microcephaly, while 2/5 cases have microcephaly
^c2/5 spastic and 3/5 normal tone. The deep tendon reflex was normal in 3/5 while exaggerated in 2/5
^d2 cases had normal MRI

ISSN: 1471-2350