Article: article from journal or magazin.
Case report (case report): feedback on an observation with a short commentary.
L1CAM mutation in a boy with hydrocephalus and duplex kidneys.
Publication types: Case Reports ; Journal Article Publication Status: ppublish
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.
Abnormalities, Multiple/genetics, Base Sequence, Child, Chromosomes, Human, X, Humans, Hydrocephalus/genetics, Introns, Kidney/abnormalities, Kidney/surgery, Kidney Function Tests, Male, Mental Retardation/genetics, Mutation, Neural Cell Adhesion Molecule L1/genetics, Sequence Deletion, Treatment Outcome, Ureter/abnormalities
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