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Aberrant splicing of neural cell adhesion molecule L1 mRNA in a family with X–linked hydrocephalus

Nature Genetics volume 2, pages 107–112 (1992)Cite this article

A Correction to this article was published on 01 March 1993

Abstract

A locus for X–linked hydrocephalus (HSAS), which is characterized by mental retardation and enlarged brain ventricles, maps to the same subchromosomal region (Xq28) as the gene for neural cell adhesion molecule L1. We have found novel L1 mRNA species in cells from affected members of a HSAS family containing deletions and insertions produced by the utilization of alternative 3′ splice sites. A point mutation at a potential branch point signal in an intron segregates with the disease and is likely to be responsible for the abnormal RNA processing. These results suggest that HSAS is a disorder of neuronal cell migration due to disruption of L1 protein function.

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Authors and Affiliations

  1. MRC Molecular Genetics Group and Department of Medicine, University of Cambridge, Addenbrooke's Hospital Hills Road, Cambridge, CB2 2QQ, UK

    André Rosenthal, Monique Jouet & Susan Kenwrick

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  1. André Rosenthal
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  2. Monique Jouet
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  3. Susan Kenwrick
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Rosenthal, A., Jouet, M. & Kenwrick, S. Aberrant splicing of neural cell adhesion molecule L1 mRNA in a family with X–linked hydrocephalus. Nat Genet 2, 107–112 (1992). https://doi.org/10.1038/ng1092-107

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