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.
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Acknowledgments
Dr. Bundscherer of the Oberschwaben-Klinik, Ravensburg and Dr. Osswald and Dr. Pfitzenmayer of the Hegau-Klinikum, Singen took care of the patient during the first years of his life and initiated the diagnostic evaluation.
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Liebau, M.C., Gal, A., Superti-Furga, A. et al. L1CAM mutation in a boy with hydrocephalus and duplex kidneys. Pediatr Nephrol 22, 1058–1061 (2007). https://doi.org/10.1007/s00467-006-0424-8
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DOI: https://doi.org/10.1007/s00467-006-0424-8