Nine novel L1 CAM mutations in families with X-linked hydrocephalus.
Hum Mutat
; 9(6): 512-8, 1997.
Article
em En
| MEDLINE
| ID: mdl-9195224
ABSTRACT
Mutations in the gene for neural cell adhesion molecule L1 are responsible for the highly variable phenotype found in families with X-linked hydrocephalus, MASA syndrome, and spastic paraplegia type I. To date, 32 different mutations have been observed, the majority being unique to individual families. Here, we report nine novel mutations in L1 in 10 X-linked hydrocephalus families. Four mutations truncate the L1 protein and eliminate cell surface expression, and two would produce abnormal L1 through alteration of RNA processing. A further two of these mutations are small in-frame deletions that have occurred through a mechanism involving tandem repeated sequences. Together with a single missense mutation, these latter examples contribute to the growing number of existing mutations that affect short regions of the L1 protein that may have particular functional significance.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Moléculas de Adesão de Célula Nervosa
/
Hidrocefalia
/
Mutação
Limite:
Female
/
Humans
/
Male
Idioma:
En
Revista:
Hum Mutat
Assunto da revista:
GENETICA MEDICA
Ano de publicação:
1997
Tipo de documento:
Article
País de afiliação:
Reino Unido