Five novel mutations in the L1 CAM gene in families with X linked hydrocephalus

Su Min Gu; Ulrike Orth; Andres Veske; Herbert Enders; Kathrin Klünder; Manfred Schlösser; Wolfgang Engel; Eberhard Schwinger; Andreas Gal

doi:10.1136/jmg.33.2.103

Five novel mutations in the L1 CAM gene in families with X linked hydrocephalus

Su Min Gu, Ulrike Orth, Andres Veske, Herbert Enders, Kathrin Klünder, Manfred Schlösser, Wolfgang Engel, Eberhard Schwinger, Andreas Gal

Research output: Contribution to journal › Article › peer-review

16 Scopus citations

Abstract

Five novel mutations have been identified in the gene encoding L1CAM, a neural cell adhesion protein, in families with X linked hydrocephalus (XHC). Interestingly, all five mutations are in the evolutionarily highly conserved Ig-like domains of the protein. The two framcshift mutations (S2insC and 9SSdelG) and the nonsense mutation (Trp276Ter) most probably result in functional null alleles and complete absence ofL1CAM at the cell surface. The two missense mutations (Tyrl94Cys and Pro24OLeu) may considerably alter the structure of the L1CAM protein. These data provide convincing evidence that XHC is genetically extremely heterogeneous.

Original language	English (US)
Pages (from-to)	103-106
Number of pages	4
Journal	Journal of medical genetics
Volume	33
Issue number	2
DOIs	https://doi.org/10.1136/jmg.33.2.103
State	Published - 1996
Externally published	Yes

Keywords

L1 CAM gene
X linked hydrocephalus

ASJC Scopus subject areas

Genetics
Genetics(clinical)

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10.1136/jmg.33.2.103

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abstract = "Five novel mutations have been identified in the gene encoding L1CAM, a neural cell adhesion protein, in families with X linked hydrocephalus (XHC). Interestingly, all five mutations are in the evolutionarily highly conserved Ig-like domains of the protein. The two framcshift mutations (S2insC and 9SSdelG) and the nonsense mutation (Trp276Ter) most probably result in functional null alleles and complete absence ofL1CAM at the cell surface. The two missense mutations (Tyrl94Cys and Pro24OLeu) may considerably alter the structure of the L1CAM protein. These data provide convincing evidence that XHC is genetically extremely heterogeneous.",

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T1 - Five novel mutations in the L1 CAM gene in families with X linked hydrocephalus

AU - Gu, Su Min

AU - Orth, Ulrike

AU - Veske, Andres

AU - Enders, Herbert

AU - Klünder, Kathrin

AU - Schlösser, Manfred

AU - Engel, Wolfgang

AU - Schwinger, Eberhard

AU - Gal, Andreas

PY - 1996

Y1 - 1996

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AB - Five novel mutations have been identified in the gene encoding L1CAM, a neural cell adhesion protein, in families with X linked hydrocephalus (XHC). Interestingly, all five mutations are in the evolutionarily highly conserved Ig-like domains of the protein. The two framcshift mutations (S2insC and 9SSdelG) and the nonsense mutation (Trp276Ter) most probably result in functional null alleles and complete absence ofL1CAM at the cell surface. The two missense mutations (Tyrl94Cys and Pro24OLeu) may considerably alter the structure of the L1CAM protein. These data provide convincing evidence that XHC is genetically extremely heterogeneous.

KW - L1 CAM gene

KW - X linked hydrocephalus

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Five novel mutations in the L1 CAM gene in families with X linked hydrocephalus

Abstract

Keywords

ASJC Scopus subject areas

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