Table 2: Phenotype-Genotype comparison of 5 patients from reference 5 with our patients.
Family |
1 |
2 |
3 |
4 |
5 |
Our case 1 |
Our case 2 |
Age |
14 years |
4 years |
10 years |
24 months |
14 years |
3 years |
2 years |
Sex |
male |
female |
Female |
male |
male |
male |
female |
Consanguineous |
no |
yes |
yes |
yes |
no |
yes |
yes |
Ethnicity |
Puerto Rica |
Lebanese |
Lebanese |
Egyptian |
Puerto Rica |
Saudi |
Saudi |
Developmental |
Severely delayed |
profound |
profound |
profound |
profound |
profound |
profound |
Seizure |
+ |
+ |
+ |
No |
+ |
+ |
+ |
Hypotonia |
+ |
+ |
+ |
+ |
+ |
+ |
+ |
Vision |
Cataract, blindness |
Vision impairment |
Vision impairment |
Bilateral optic atrophy |
Vision impairment |
No vision impairment |
Vision impairment |
Dysmorphasic |
|
|
|
|
|
|
|
MRI brain |
ventriculomegaly decreased white-matter volume and thin corpus callosum |
ventriculomegaly, thin but complete corpus callosum, and mild cerebellar vermis hypoplasia |
ventriculomegaly, thin but complete corpus callosum, and mild cerebellar vermis hypoplasia |
ventriculomegaly, absent corpus callosum, and mild cerebellar vermis hypoplasia |
ventriculomegaly, thin corpus callosum, and mild cerebellar vermis hypoplasia |
bilateral diffuse loss of the normal cerebral white matter |
periventricular leukomalacia, and white-matter changes |
TBCK mutation |
c.376C > T (p.Arg126 |
c.1363A > T (p.Lys455 |
c.1363A > T (p.Lys455 |
c.1532G > A (p.Arg511 |
c.376C > T (p.Arg126 |
c.1897+1G > A |
c.1897+1G > A |