Child's Nervous System

, Volume 12, Issue 12, pp 742–747 | Cite as

A new mutation of the L1CAM gene in an X-linked hydrocephalus family

  • Shuichi Izumoto
  • Mami Yamasaki
  • Norio Arita
  • Shoju Hiraga
  • Takanori Ohnishi
  • Ken Fujitani
  • Saburo Sakoda
  • Toru Hayakawa
Original Paper


X-linked hydrocephalus is a genetic form of hydrocephalus that frequently occurs in males. It is characterized by ventricular dilatation, mental retardation, deformity of the thumb and spastic paraparesis. Recently, 23 different mutations of the gene for the neural cell adhesion molecule, L1CAM, located at chromosome region Xq28, have been reported, 16 of which were detected in families with X-linked hydrocephalus. We sequenced the coding region of the L1CAM gene of patients from two different families with X-linked hydrocephalus and found a novel mutation at nucleotide residue 1963 in one family. This mutation from adenine to guanine results in an amino acid change from lysine to glutamic acid at residue 655 of the L1CAM protein, which belongs to the fibronectin type III domain. We report another method for the rapid identification of the mutation based on the polymerase chain reaction. This mutation was not detected among 70 X chromosomes from a healthy population. Ours is the first report demonstrating this gene mutation in X-linked hydrocephalus in an Asian population. Our findings further emphasize the evolving genotypic heterogeneity in X-linked hydrocephalus.

Key words

X-linked hydrocephalus L1CAM Gene mutation 


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Copyright information

© Springer-Verlag 1996

Authors and Affiliations

  • Shuichi Izumoto
    • 1
  • Mami Yamasaki
    • 2
  • Norio Arita
    • 1
  • Shoju Hiraga
    • 1
  • Takanori Ohnishi
    • 1
  • Ken Fujitani
    • 3
  • Saburo Sakoda
    • 4
  • Toru Hayakawa
    • 1
  1. 1.Department of NeurosurgeryOsaka University Medical SchoolSuitaJapan
  2. 2.Department of NeurosurgeryOsaka National HospitalOsakaJapan
  3. 3.Department of Pediatric NeurosurgeryOsaka City General HospitalOsakaJapan
  4. 4.Department of NeurologyOsaka University Medical SchoolOsakaJapan

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