Rudnik-Schoeneborn, S. and Hehr, U. and von Kalle, T. and Bornemann, A. and Winkler, J. and Zerres, K. (2009) 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. NEUROPEDIATRICS, 40 (3). pp. 129-133. ISSN 0174-304X,
Full text not available from this repository. (Request a copy)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.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | CL COTRANSPORTER KCC3; CORPUS-CALLOSUM; AGENESIS; |
| Subjects: | 600 Technology > 610 Medical sciences Medicine |
| Divisions: | Medicine > Lehrstuhl für Humangenetik |
| Depositing User: | Dr. Gernot Deinzer |
| Date Deposited: | 14 Sep 2020 08:38 |
| Last Modified: | 14 Sep 2020 08:38 |
| URI: | https://pred.uni-regensburg.de/id/eprint/28911 |
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