Andermann Syndrome can be a Phenocopy of HMSN- Report of a Discordant Sibship wi

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Neuropediatrics. 2009 Aug;40(3):129-133.

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.

Rudnik-Schöneborn S, Hehr U, Kalle TV, Bornemann A, Winkler J, Zerres K.

Institute of Human Genetics, RWTH Aachen University, Aachen, Germany.

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.