A new splice-site mutation in SLC12A6 causing Andermann syndrome with motor neuronopathy

Introduction

Solute carrier family 12 member 6 (SLC12A6) mutations have been found to be responsible for the phenotype that causes agenesis of the corpus callosum (CC) with peripheral neuropathy, a condition which is also known as Andermann syndrome (AS). AS is an autosomal-recessive disease with syndromic features that has rarely been reported anywhere in the world other than Quebec, Canada.1 Hereditary neuropathies (HN) and complicated hereditary spastic paraparesis (HSP) call for differential diagnosis, since AS has both neurodevelopmental and neurodegenerative aspects affecting both sensory and motor fibres.1 2 This study presents an AS family who has motor neuropathy without sensory involvement due to a new SLC12A6 mutation.

Patients

Patient 1 is a 17-year-old man of a first degree cousin marriage. He had hypotonia at birth. At the age of 2 years, he could walk independently, but after 3, he had difficulty in walking, which worsened in years...

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