Journal of Pediatric Neurology 2017; 15(02): 090-094
DOI: 10.1055/s-0037-1599831
Case Report
Georg Thieme Verlag KG Stuttgart · New York

Andermann Syndrome in a Pakistani Family Caused by a Novel Mutation in SLC12A6

Tatiana Muñoz
1   Division of Clinical and Metabolic Genetics, University of Toronto, The Hospital for Sick Children, Toronto, Ontario, Canada
2   Clínica Alemana de Santiago, Facultad de Medicina Clínica Alemana, Universidad del Desarrollo, Santiago, Chile
,
Pradeep Krishnan
3   Division of Pediatric Neuroradiology, The Hospital for Sick Children and University of Toronto, Toronto, Ontario, Canada
,
Jiri Vajsar
4   Division of Neurology, University of Toronto, The Hospital for Sick Children, Toronto, Ontario, Canada
,
Suzanne Laughlin
3   Division of Pediatric Neuroradiology, The Hospital for Sick Children and University of Toronto, Toronto, Ontario, Canada
,
Grace Yoon
1   Division of Clinical and Metabolic Genetics, University of Toronto, The Hospital for Sick Children, Toronto, Ontario, Canada
4   Division of Neurology, University of Toronto, The Hospital for Sick Children, Toronto, Ontario, Canada
› Author Affiliations
Further Information

Publication History

02 November 2016

29 January 2017

Publication Date:
14 March 2017 (online)

Abstract

Agenesis of the corpus callosum with peripheral neuropathy (ACCPN) or Andermann syndrome is an autosomal recessive condition caused by mutations in SLC12A6. The neurodegenerative features are characterized primarily by severe and progressive polyneuropathy, with eventual loss of ambulation and limited lifespan. We report two siblings with Andermann syndrome from a consanguineous Pakistani family with severe global developmental delays, sensory-motor polyneuropathy, and complete agenesis of the corpus callosum, associated with a homozygous c.745+2T>A mutation in SLC12A6. This sequence change is predicted to inactivate the donor splice site and abolish correct splicing of intron 6, yielding an abnormally truncated protein. This is the first report of Andermann syndrome in patients of Pakistani origin, which supports the pan-ethnic incidence of this condition.

 
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