Table 1 Reported MPDZ mutations in patients with congenital hydrocephalus
DNA Change | Protein Change | No. of Patients | Origin | Phenotypes | Ref. |
|---|---|---|---|---|---|
c.628C > T | p.(Gln210*) | 1 | Saudi | Severe congenital supratentorial hydrocephalus, mild hypotonia, coloboma, atrial septal defect | [12] |
c.628C > T | p.(Gln210*) | 1 | Saudi | Severe congenital supratentorial hydrocephalus | [12] |
c.1291_1294del | p.(Val431Metfs*14) | 2 sibs | Senegalese | Massive hydrocephalus | [13] |
c.533 + 1G > T | Frame-shift | 2 | – | Foetal macrosomia with severe isolated ventriculomegaly | [13] |
c.2248C > T | p.(Arg750*) | 3 sibs | – | Recurrent hydrocephalus | [13] |
(Compound heterozygous) c.394G > A, c.1744C > G | Predicted: p.Gly132Ser Experimentally shown to cause exon 5 skipping p.Leu582Val | 1 | Emirati | Congenital non-progressive communicating hydrocephalus with normal developmental milestones | Current study |