L1CAM mutation in a boy with hydrocephalus and duplex kidneys

Pediatr Nephrol. 2007 Jul;22(7):1058-61. doi: 10.1007/s00467-006-0424-8. Epub 2007 Feb 10.


Mutations in the X-chromosomal gene (L1CAM) for cell adhesion molecule L1 are associated with a heterogeneous group of conditions that include agenesis of the corpus callosum, hydrocephalus, spastic paraplegia, adducted thumbs and mental retardation (L1-spectrum disease, CRASH or MASA syndrome). Although L1CAM is expressed during renal development and L1cam-deficient mice have congenital malformations of the kidney and the urinary tract, L1CAM mutations have not been associated with renal anomalies in men. We report on a boy with prenatally detected hydrocephalus. After his birth, bilateral duplex kidneys and ureters, with a unilateral mega-ureter serving a hydronephrotic upper pole, as well as agenesis of the corpus callosum, adducted thumbs, spasticity, and mental retardation were recognized, fulfilling the criteria of an L1-spectrum disease. Genetic testing of the patient and his mother identified a 2 bp deletion in the invariant splice consensus sequence of intron 18 of L1CAM, predicting a largely truncated or absent protein. At the age of 9 years, 7 years after heminephrectomy, the boy has normal renal function. This observation suggests that patients with L1CAM mutations may have renal abnormalities as seen in the L1cam-deficient mouse model. L1CAM might, therefore, also be considered a possible candidate gene for renal malformations.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics
  • Base Sequence
  • Child
  • Chromosomes, Human, X*
  • Humans
  • Hydrocephalus / genetics*
  • Intellectual Disability / genetics
  • Introns
  • Kidney / abnormalities*
  • Kidney / diagnostic imaging
  • Kidney / surgery
  • Kidney Function Tests
  • Male
  • Mutation*
  • Neural Cell Adhesion Molecule L1 / genetics*
  • Sequence Deletion
  • Treatment Outcome
  • Ultrasonography
  • Ureter / abnormalities


  • Neural Cell Adhesion Molecule L1