Abstract
Christianson syndrome (CS) is an X-linked neurodevelopmental disorder caused by deleterious mutations in SLC9A6. Affected families organized the inaugural Christianson Syndrome Association conference to advance CS knowledge and develop questions that may be prioritized in future research.
Highlights
Christianson syndrome (CS) is a novel, X-linked developmental brain disorder, clinically recognized by the symptoms of global developmental delay, intellectual disability, ataxia, epilepsy, non- or minimally verbal status, ophthalmoplegia and most often postnatal microcephaly [1]
CS is caused by deleterious mutations in SLC9A6, an X-linked gene that codes for the endosomal Na+/H+ exchanger 6 (NHE6), which is believed to be involved with circuit development [2,3]
Christianson Syndrome Association inaugural conference The CSA symposium began on the evening of Thursday 27 June, as families were welcomed by board members and invited to a ‘meet and greet’ event
Summary
Christianson syndrome (CS) is a novel, X-linked developmental brain disorder, clinically recognized by the symptoms of global developmental delay, intellectual disability, ataxia, epilepsy, non- or minimally verbal status, ophthalmoplegia and most often postnatal microcephaly [1]. Organization of the meeting The following is a meeting report of the Christianson Syndrome Association (CSA) Inaugural Conference that took place between June 27th and June 29th, 2013 at the Warren Alpert Medical School of Brown University, Providence, RI, USA. The event was organized by the CSA board members, and was hosted by Dr Eric Morrow of Brown University.
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