Andermann syndrome in a pakistani family caused by a novel mutation in SLC12A6

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dc.contributor.authorMuñoz, Tatiana
dc.contributor.authorKrishnan, Pradeep
dc.contributor.authorVajsar, Jiri
dc.contributor.authorLaughlin, Suzanne
dc.contributor.authorYoon, Grace
dc.date.accessioned2018-01-17T12:23:15Z
dc.date.available2018-01-17T12:23:15Z
dc.date.issued2017
dc.description.abstractAgenesis 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.
dc.format.extent5
dc.identifier.citationMuñoz, Tatiana & Krishnan, Pradeep & Vajsar, Jiri & Laughlin, Suzanne & Yoon, Grace. (2017). Andermann Syndrome in a Pakistani Family Caused by a Novel Mutation in SLC12A6. Journal of Pediatric Neurology. 15. 10.1055/s-0037-1599831.
dc.identifier.urihttp://hdl.handle.net/11447/1906
dc.identifier.urihttp://dx.doi.org/10.1055/s-0037-1599831
dc.language.isoen_US
dc.publisherElsevier
dc.subjectneuropathy
dc.subjectSLC12A6
dc.subjectcorpus callosal agenesis
dc.titleAndermann syndrome in a pakistani family caused by a novel mutation in SLC12A6
dc.typeArtículo

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