PMID: 9643285Jun 27, 1998Paper

A silent mutation, C924T (G308G), in the L1CAM gene results in X linked hydrocephalus (HSAS)

Journal of Medical Genetics
Y Z DuC E Schwartz

Abstract

The L1 cell adhesion molecule (L1CAM) is a neuronal gene involved in the development of the nervous system. Mutations in L1CAM are known to cause several clinically overlapping X linked mental retardation conditions: X linked hydrocephalus (HSAS), MASA syndrome (mental retardation, aphasia, shuffling gait, adducted thumbs), spastic paraplegia type I (SPG1), and X linked agenesis of the corpus callosum (ACC). In an analysis of a family with HSAS, we identified a C-->T transition (C924T) in exon 8 that was initially thought to have no effect on the protein sequence as the alteration affected the third base of a codon (G308G). Extensive analysis of the other 27 exons showed no other alteration. A review of the sequence surrounding position 924 indicated that the C-->T transition created a potential 5' splice site consensus sequence, which would result in an in frame deletion of 69 bp from exon 8 and 23 amino acids of the L1CAM protein. RT-PCR of the RNA from an affected male fetus and subsequent sequence analysis confirmed the use of the new splice site. This is the first report of a silent nucleotide substitution in L1CAM giving rise to an alteration at the protein level. Furthermore, it shows that as mutation analysis plays an e...Continue Reading

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Citations

Oct 15, 2003·Fertility and Sterility·Detlef PietrowskiChristoph Keck
Feb 1, 2012·Biomolecular Concepts·Pál Venetianer
Mar 10, 2015·Annual Review of Biophysics·Julie L Chaney, Patricia L Clark
May 22, 2016·Journal of Molecular Neuroscience : MN·Rosangela FereseStefano Gambardella
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Oct 26, 2000·American Journal of Medical Genetics·R E StevensonL B Holmes
Sep 2, 2009·The Korean Journal of Internal Medicine·Joo Ho HamEui Jin Choi
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