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Mutation analysis of a putative sialyltransferase gene, the SFRS2 splicing factor gene and the c-myb ET-locus in two families with hereditary neuralgic amyotrophy (HNA)

Published online by Cambridge University Press:  01 September 1998

G. KUHLENBAEUMER ,
J. MEULEMAN ,
A. SCHIRMACHER ,
F. STOEGBAUER ,
E. B. RINGELSTEIN ,
M. WEHNERT ,
M. HOELTZENBEIN ,
C. VAN BROECKHOVEN  and
V. TIMMERMAN
G. KUHLENBAEUMER
Affiliation:
Neurogenetics Laboratory, Flanders Interuniversity Institute for Biotechnology (VIB), Born-Bunge Foundation (BBS), University of Antwerp (UIA), Department of Biochemistry, Antwerpen, Belgium Department of Neurology, University Hospital Muenster, Muenster, Germany
J. MEULEMAN
Affiliation:
Neurogenetics Laboratory, Flanders Interuniversity Institute for Biotechnology (VIB), Born-Bunge Foundation (BBS), University of Antwerp (UIA), Department of Biochemistry, Antwerpen, Belgium
A. SCHIRMACHER
Affiliation:
Department of Neurology, University Hospital Muenster, Muenster, Germany
F. STOEGBAUER
Affiliation:
Department of Neurology, University Hospital Muenster, Muenster, Germany
E. B. RINGELSTEIN
Affiliation:
Department of Neurology, University Hospital Muenster, Muenster, Germany
M. WEHNERT
Affiliation:
Institute for Human Genetics, University of Greifswald, Greifswald, Germany
M. HOELTZENBEIN
Affiliation:
Institute for Human Genetics, University of Greifswald, Greifswald, Germany
C. VAN BROECKHOVEN
Affiliation:
Neurogenetics Laboratory, Flanders Interuniversity Institute for Biotechnology (VIB), Born-Bunge Foundation (BBS), University of Antwerp (UIA), Department of Biochemistry, Antwerpen, Belgium
V. TIMMERMAN
Affiliation:
Neurogenetics Laboratory, Flanders Interuniversity Institute for Biotechnology (VIB), Born-Bunge Foundation (BBS), University of Antwerp (UIA), Department of Biochemistry, Antwerpen, Belgium
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Abstract

HNA is an autosomal dominant recurrent focal neuropathy involving the brachial plexus. The etiology of HNA is unknown but the genetic defect most likely affects a non-neuronal tissue. We previously described linkage to chromosome 17q24–q25 in two HNA-families. Here we report the mutation analysis of two candidate genes: a cDNA encoding a putative sialyltransferase and the SFRS2 splicing factor including the c-myb ET-locus which is encoded on the opposite strand of the SFRS2 gene. The complete protein coding regions of both genes were studied by direct DNA sequencing. We did not find a disease associated mutation indicating that these genes are most likely not involved in the pathogenesis of HNA. However, we identified and characterized a rare AvaII polymorphism in the SFRS2 gene and detected a sequencing error, leading to an amino acid change (Val11Leu) in the published sequence of the putative sialyltransferase.

Type
Research Article
Information
Annals of Human Genetics , Volume 62 , Issue 5 , September 1998 , pp. 397 - 400
Copyright
© University College London 1998

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