title: 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.
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.
authors.affiliation: Institute of Human Genetics, RWTH Aachen University, Aachen, Germany. srudnik-schoeneborn@ukaachen.de
authors.forename: S
authors.initials: S
authors.lastname: Rudnik-Schöneborn
authors.forename: U
authors.initials: U
authors.lastname: Hehr
authors.forename: T
authors.initials: T
authors.lastname: von Kalle
authors.forename: A
authors.initials: A
authors.lastname: Bornemann
authors.forename: J
authors.initials: J
authors.lastname: Winkler
authors.forename: K
authors.initials: K
authors.lastname: Zerres
mesh_terms: D061085:Agenesis of Corpus Callosum; D002648:Child; D004252:DNA Mutational Analysis; D005192:Family Health; D005260:Female; D009477:Hereditary Sensory and Autonomic Neuropathies / Q000150:complications / Q000235:genetics / Q000473:pathology; D006801:Humans; D008279:Magnetic Resonance Imaging / Q000379:methods; D008297:Male; D001523:Mental Disorders / Q000150:complications / Q000235:genetics / Q000473:pathology; D046529:Microscopy, Electron, Transmission; D009154:Mutation / Q000235:genetics*; D013497:Sural Nerve / Q000473:pathology / Q000648:ultrastructure; D027981:Symporters / Q000235:genetics*; D000096922:K Cl- Cotransporters
chemical_list: D027981:Symporters; C119650:SLC12A6 protein, human; D000096922:K Cl- Cotransporters