{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,5]],"date-time":"2026-04-05T04:23:48Z","timestamp":1775363028736,"version":"3.50.1"},"reference-count":21,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2016,6,3]],"date-time":"2016-06-03T00:00:00Z","timestamp":1464912000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100011773","name":"Regional Council of Burgundy","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100011773","id-type":"DOI","asserted-by":"crossref"}]},{"name":"Fondation Jerome Lejeune"},{"name":"Agence de Biomedecine"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2016,8]]},"abstract":"<jats:sec><jats:label\/><jats:p>Using targeted next generation sequencing, we have identified a splicing mutation (c.526\u20109_526\u20105del) in the <jats:italic>SLC9A6<\/jats:italic> gene in a 9\u2010year\u2010old 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\u2010frame deletion of 26 amino acids in the TM4 domain. It segregates with cognitive impairment or learning difficulties in other members of the family. Mutations in <jats:italic>SLC9A6<\/jats:italic> have been reported in X\u2010linked Christianson syndrome associating severe to profound intellectual deficiency and an Angelman\u2010like phenotype with microcephaly, absent speech, ataxia with progressive cerebellar atrophy, ophthalmoplegia, epilepsy, and neurological regression. The proband and his maternal uncle both have an attenuated phenotype with mild ID, attention deficit disorder, speech difficulties, and mild asymptomatic cerebellar atrophy. The proband also have microcephaly. The mutation cosegregated with learning disabilities and speech difficulties in the female carriers (mother and three sisters of the proband). Detailed neuropsychological, speech, and occupational therapy investigations in the female carriers revealed impaired oral and written language acquisition, with dissociation between verbal and performance IQ. An abnormal phenotype, ranging from learning disability with predominant speech difficulties to mild intellectual deficiency, has been described previously in a large proportion of female carriers. Besides broadening the clinical spectrum of <jats:italic>SLC9A6<\/jats:italic> gene mutations, we present an example of a monogenic origin of mild learning disability. \u00a9 2016 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37765","type":"journal-article","created":{"date-parts":[[2016,6,3]],"date-time":"2016-06-03T05:13:02Z","timestamp":1464930782000},"page":"2103-2110","source":"Crossref","is-referenced-by-count":25,"title":["A new family with an <i>SLC9A6<\/i> mutation expanding the phenotypic spectrum of Christianson syndrome"],"prefix":"10.1002","volume":"170","author":[{"given":"Alice","family":"Masurel\u2010Paulet","sequence":"first","affiliation":[{"name":"Centre de G\u00e9n\u00e9tique et Centre de R\u00e9f\u00e9rence Anomalies du d\u00e9veloppement et Syndromes malformatifs H\u00f4pital d'Enfants CHU Dijon Dijon France"},{"name":"F\u00e9d\u00e9ration Hospitalo\u2010Universitaire TRANSLAD CHU Dijon et Universit\u00e9 F\u00e9d\u00e9rale de Bourgogne 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