{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,4]],"date-time":"2026-08-04T01:48:56Z","timestamp":1785808136699,"version":"3.56.0"},"reference-count":31,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2014,9,24]],"date-time":"2014-09-24T00:00:00Z","timestamp":1411516800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2014,12]]},"abstract":"<jats:sec><jats:label\/><jats:p>We describe a boy with developmental delay, speech delay, and minor dysmorphic features with a heterozygous de novo \u223c460\u2009kb deletion at 2p13.2 involving only parts of <jats:italic>EXOC6B<\/jats:italic> present in about 50% of lymphocytes. This widely expressed gene encodes the exocyst component 6B, which is part of a multiprotein complex required for targeted exocytosis. Little is known about the effect of <jats:italic>EXOC6B<\/jats:italic> haploinsufficiency. In 2008, a patient with a complex syndromic phenotype, including left renal agenesis, neutropenia, recurrent pulmonary infections, long bone diaphysis broadening, growth retardation, and developmental delay (DD) was found to carry a de novo translocation t(2;7) involving <jats:italic>TSN3<\/jats:italic> and <jats:italic>EXOC6B<\/jats:italic>. Further characterization of the translocation indicated that disruption of <jats:italic>TSN3<\/jats:italic> may be responsible for the skeletal phenotype. Recently, a heterozygous deletion of <jats:italic>EXOC6B<\/jats:italic> along with a deletion of the <jats:italic>CYP26B1<\/jats:italic> gene has been reported in a boy with intellectual disability, speech delay, hyperactivity, facial asymmetry, a dysplastic ear, brachycephaly, and mild joint contractures. Additionally, disruption of <jats:italic>EXOC6B<\/jats:italic> by a de novo balanced translocation t(2;8) has been described in a patient with developmental delay, epilepsy, autistic and aggressive behavior. This is the first report of a de novo deletion affecting only <jats:italic>EXOC6B<\/jats:italic> in an individual with developmental delay. In conclusion, based on our findings and recent data from the literature, there is evidence that <jats:italic>EXOC6B<\/jats:italic> and the exocyst complex might play an important role in the molecular pathogenesis of intellectual disability. \u00a9 2014 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36770","type":"journal-article","created":{"date-parts":[[2014,9,24]],"date-time":"2014-09-24T18:26:57Z","timestamp":1411583217000},"page":"3088-3094","source":"Crossref","is-referenced-by-count":25,"title":["Mosaic deletion of <i>EXOC6B<\/i>: Further evidence for an important role of the exocyst complex in the pathogenesis of intellectual disability"],"prefix":"10.1002","volume":"164","author":[{"given":"Christina","family":"Evers","sequence":"first","affiliation":[{"name":"Institute of Human Genetics Heidelberg University Heidelberg 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