title: L1CAM mutation in a boy with hydrocephalus and duplex kidneys.
abstract: 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.
authors.affiliation: Department of Pediatrics and Adolescent Medicine, University Hospital of Freiburg, Mathildenstrasse 1, 79106, Freiburg, Germany.
authors.forename: Max Christoph
authors.initials: MC
authors.lastname: Liebau
authors.forename: Andreas
authors.initials: A
authors.lastname: Gal
authors.forename: Andrea
authors.initials: A
authors.lastname: Superti-Furga
authors.forename: Heymut
authors.initials: H
authors.lastname: Omran
authors.forename: Martin
authors.initials: M
authors.lastname: Pohl
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D001483:Base Sequence; D002648:Child; D041321:Chromosomes, Human, X; D006801:Humans; D006849:Hydrocephalus / Q000235:genetics*; D008607:Intellectual Disability / Q000235:genetics; D007438:Introns; D007668:Kidney / Q000002:abnormalities* / Q000000981:diagnostic imaging / Q000601:surgery; D007677:Kidney Function Tests; D008297:Male; D009154:Mutation; D039842:Neural Cell Adhesion Molecule L1 / Q000235:genetics*; D017384:Sequence Deletion; D016896:Treatment Outcome; D014463:Ultrasonography; D014513:Ureter / Q000002:abnormalities
chemical_list: D039842:Neural Cell Adhesion Molecule L1