A new family with an SLC9A6 mutation expanding the phenotypic spectrum of Christianson syndrome.

doi:10.1002/ajmg.a.37765

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Article

A new family with an SLC9A6 mutation expanding the phenotypic spectrum of Christianson syndrome.

American journal of medical genetics. Part A - 1 Aug 2016

Masurel-Paulet Alice, Piton Amélie, Chancenotte Sophie, Redin Claire, Thauvin-Robinet Christel, Henrenger Yvan, Minot Delphine, Creppy Audrey, Ruffier-Bourdet Marie, Thevenon Julien, Kuentz Paul, Lehalle Daphné, Curie Aurore, Blanchard Gaelle, Ghosn Ezzat, Bonnet Marlene, Archimbaud-Devilliers Mélanie, Huet Frédéric, Perret Odile, Philip Nicole, Mandel Jean-Louis, Faivre Laurence

Abstract excerpt

Using targeted next generation sequencing, we have identified a splicing mutation (c.526-9_526-5del) in the SLC9A6 gene in a 9-year-old boy with mild intellectual disability (ID), microcephaly, and social interaction disabilities. This intronic microdeletion leads to the skipping of exon 3 and to an in-frame deletion of 26 amino acids in the TM4 domain. It segregates with cognitive impairment or learning...

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PMID: 27256868
DOI: 10.1002/ajmg.a.37765

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