Our results further establish <i>CCNO</i> as an important gene for normal development and suggest that heterozygous CCNO mutations could underlie hydrocephalus or diminished fertility in some human patients.
The nonsense mutation XM_001491545 c.1423C>T corresponding to XP_001491595 p.Gln475* was identical to a B3GALNT2 mutation identified in a human case of muscular dystrophy-dystroglycanopathy with hydrocephalus.
This patient shows a complex phenotype, including the unusual feature of hydrocephalus; but because an uncle with SGBS is less affected, it remains unclear whether the GPC4 deletion itself contributes to the phenotype.
Mutations in the AP1S2 gene encoding the sigma 2 subunit of the adaptor protein 1 complex are associated with syndromic X-linked mental retardation with hydrocephalus and calcifications in basal ganglia.
The risk of recurrence of NTD is 1.8% in these families, the risk of hydrocephalus 0.3% which represents a risk three times greater than that of the population at large.
We provide strong genetic and biochemical evidence that hydrocephaly and white spotting in B3glct mutants resulted from loss of ADAMTS20, eye abnormalities from partial reduction of ADAMTS9, and cleft palate from loss of ADAMTS20 and partially reduced ADAMTS9 function.
In addition to CS, subsets of such disparate syndromes as Bannayan-Riley-Ruvalcaba syndrome, Proteus syndrome, and possibly VATER with hydrocephalus and megencephaly with autistic features have been found to have germline PTEN mutations.
Our data define two major clinical POMT1 phenotypes, which should prompt genetic testing including the POMT1 gene: patients with a severe WWS manifestation predominantly present with profound neonatal muscular hypotonia and a severe and progressive hydrocephalus with involvement of brainstem and/or cerebellum.
A recurrent de novo missense pathogenic variant in SMARCB1 causes severe intellectual disability and choroid plexus hyperplasia with resultant hydrocephalus.
We also observed a slight correlation between the location of the mutation and clinical severity in the brain: patients with mutations near the 5' terminus of the POMGnT1 coding region show relatively severe brain symptoms such as hydrocephalus, while patients with mutations near the 3' terminus have milder phenotypes.
However, no study has described in a genetically homogeneous population with confirmed fibroblast growth factor receptor type 2 (FGFR2) mutation eventual correlations between skull base abnormalities and hydrocephalus or CTE.
In this retrospective study, the phase-contrast MR imaging of 185 patients with suspected chronic adult hydrocephalus was evaluated using the CSF Flow software package.
In non-syndromic CIM subjects, the presence of hydrocephalus could be explained by an occlusion of the basal CSF pathways, which would occur completely in a minority of cases (only 7-10% of CIM patients show hydrocephalus) while it would be partial in the remaining cases (no hydrocephalus).
Our follow-up results are comparable with those of previous, larger studies and confirm the efficacy of treating hydrocephalus with ETV in selected cases and with CSF shunt only in cases of clearly increased intracranial pressure.
PDC versus graft dural closure (GDC; 35% vs 7%, OR 5.88, 95% CI 2.94-50.0, p = 0.03) and hydrocephalus ultimately requiring permanent CSF diversion (OR 3.30, 95% CI 1.07-10.19, p = 0.0007) were associated with wound infection requiring surgical debridement.