Refining the genetic location of the gene for X linked hydrocephalus within Xq28.

Abstract

The most common inherited form of hydrocephalus, X

Novel mutations in the L1CAM gene support the complexity of L1 syndrome

“…A different mutation affecting the same codon (p.Trp9Ser) has been previously reported in a 6 year-old patient with prenatal-onset hydrocephalus, mental retardation, adducted thumbs and spastic displegia [7,8]. Clinical features and phenotype severity were similar to those of our patient.…”

Congenital hydrocephalus: Nosology and guidelines for clinical approach and genetic counselling

“…Bilateral absence of the pyramids is an important and almost pathognomonic finding in autopsies and MRI studies [14]. Linkage analysis in HSAS families placed the locus at Xq28 [34,71]. Clinical features in surviving HSAS patients show great overlap with the patients affected with MASA syndrome (McKusick 303350) [7,57].…”

Hydrocephalus and abnormal subcommissural organ in mice lacking presenilin-1 in Wnt1 cell lineages

“…The development and progression of congenital hydrocephalus is not yet well understood. Only one hydrocephalus gene, L1CAM , has been identified in humans (Jouet et al, 1993). The mutations are distributed over the functional protein domains of L1CAM protein.…”