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A new splice-site mutation in SLC12A6 causing Andermann syndrome with motor neuronopathy
  1. Nihan Hande Akçakaya1,2,
  2. Zuhal Yapıcı3,
  3. Ceren İskender Tunca4,
  4. Pınar Tektürk3,
  5. Fulya Akçimen4,
  6. Ayşe Nazlı Başak4
  1. 1Department of Genetics, Istanbul University, Aziz Sancar Institute of Experimental Medicine, Istanbul, Turkey
  2. 2Spastic Children’s Foundation of Turkey, Istanbul, Turkey
  3. 3Division of Child Neurology, Department of Neurology, Istanbul University, Istanbul Faculty of Medicine, Istanbul, Turkey
  4. 4MBG Department, Suna and İnan Kıraç Foundation, Bogazici University, NDAL, Istanbul, Turkey
  1. Correspondence to Dr Nihan Hande Akçakaya, Department of Genetics, Istanbul University, Aziz Sancar Institute of Experimental Medicine, Istanbul 34093, Turkey; nhakcakaya{at}gmail.com

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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 to follow. He suffered from mild mental retardation, had phenotypic long face, hypoplastic maxilla, minimal bilateral ptosis (figure 1) and high-arched palate. Long tapered fingers were remarkable (figure 1). He had thoracic scoliosis and flexion contracture in both ankles. Symmetrical reduced muscle strength and atrophy existed in the proximal and distal muscles, which were more prominent in the lower extremities. Plantar reflex was noted to be extensor, and deep tendon reflexes could be detected. Electromyography (EMG) examination showed that sensory transmissions were normal, but …

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