Neuropediatrics 2009; 40(3): 129-133
DOI: 10.1055/s-0029-1234084
Short Communication

© Georg Thieme Verlag KG Stuttgart · New York

Andermann Syndrome can be a Phenocopy of Hereditary Motor and Sensory Neuropathy – Report of a Discordant Sibship with a Compound Heterozygous Mutation of the KCC3 Gene

S. Rudnik-Schöneborn1 , U. Hehr2 , T. von Kalle3 , A. Bornemann4 , J. Winkler5 , K. Zerres1
  • 1Institute of Human Genetics, RWTH Aachen University, Aachen, Germany
  • 2Centre for and Department of Human Genetics, University of Regensburg, Regensburg, Germany
  • 3Institute of Radiology, Olgahospital, Stuttgart, Germany
  • 4Institute of Brain Research, University of Tübingen, Tübingen, Germany
  • 5Division of Molecular Neurology, University Hospital of Erlangen, Erlangen, Germany
Further Information

Publication History

received 28.04.2009

accepted 02.07.2009

Publication Date:
17 December 2009 (online)

Abstract

Andermann syndrome is a rare autosomal recessive disorder characterized by agenesis of the corpus callosum (ACC), progressive motor-sensory neuropathy, mental retardation and facial features. We report on two siblings with the clinical picture of a demyelinating hereditary motor and sensory neuropathy (HMSN), where only the presence of ACC in the younger brother pointed to the diagnosis of Andermann syndrome. Mutation analysis of the KCC3 (SLC12A6) gene showed a compound heterozygous mutation; a maternal missense mutation c.1616G>A (p.G539D) and a paternal splice mutation c.1118+1G>A in both siblings. We hypothesize that mutations of the KCC3 gene may result in non-syndromic childhood onset HMSN.

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Correspondence

Sabine Rudnik-SchönebornMD 

Institute of Human Genetics

RWTH Aachen University

Pauwelsstraße 30

52074 Aachen

Germany

Phone: +49/241/808 01 78

Fax: +49/241/808 25 80

Email: srudnik-schoeneborn@ukaachen.de