RGD Reference Report - A silent mutation, C924T (G308G), in the L1CAM gene results in X linked hydrocephalus (HSAS). - Rat Genome Database

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

Authors: Du, YZ  Dickerson, C  Aylsworth, AS  Schwartz, CE 
Citation: Du YZ, etal., J Med Genet. 1998 Jun;35(6):456-62.
RGD ID: 11064095
Pubmed: PMID:9643285   (View Abstract at PubMed)
PMCID: PMC1051338   (View Article at PubMed Central)

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 ever more important role in human genetics, the identification of a synonymous base change should not be routinely discounted as a neutral polymorphism.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
MASA syndrome  IAGP 11064095DNA:mutation:cds:924C>T(human)RGD 
MASA syndrome  ISOL1CAM (Homo sapiens)11064095; 11064095DNA:mutation:cds:924C>T(human)RGD 

Objects Annotated

Genes (Rattus norvegicus)
L1cam  (L1 cell adhesion molecule)

Genes (Mus musculus)
L1cam  (L1 cell adhesion molecule)

Genes (Homo sapiens)
L1CAM  (L1 cell adhesion molecule)


Additional Information