{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,29]],"date-time":"2025-12-29T04:48:56Z","timestamp":1766983736890,"version":"3.37.3"},"reference-count":13,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2014,5,30]],"date-time":"2014-05-30T00:00:00Z","timestamp":1401408000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000886","name":"Duke Endowment","doi-asserted-by":"crossref","id":[{"id":"10.13039\/100000886","id-type":"DOI","asserted-by":"crossref"}]},{"name":"Greenwood Genetic Center Foundation"},{"DOI":"10.13039\/100000071","name":"National Institute of Child Health and Human Development","doi-asserted-by":"crossref","award":["HD26202"],"award-info":[{"award-number":["HD26202"]}],"id":[{"id":"10.13039\/100000071","id-type":"DOI","asserted-by":"crossref"}]},{"name":"National Institute of Neurologic Diseases and Stroke","award":["NS073854"],"award-info":[{"award-number":["NS073854"]}]},{"name":"South Carolina Department of Disabilities and Special Needs"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2015,5]]},"abstract":"<jats:p>Alpha\u2010thalassemia intellectual disability, one of the recognizable X\u2010linked disability syndromes, is characterized by short stature, microcephaly, distinctive facies, hypotonic appearance, cardiac and genital anomalies, and marked skewing of X\u2010inactivation in female carriers. With the advent of next generation sequencing, mutations have been identified that result in less severe phenotypes lacking one or more of these phenotypic manifestations. Here we report five unrelated kindreds in which a c.<jats:styled-content style=\"fixed-case\">109C<\/jats:styled-content>&gt;T (p.<jats:styled-content style=\"fixed-case\">R37X<\/jats:styled-content>) mutation segregates with a variable but overall milder phenotype. The distinctive facial appearance of alpha\u2010thalassemia intellectual disability was present in only one of the 18 affected males evaluated beyond the age of puberty, although suggestive facial appearance was present in several during infancy or early childhood. Although the responsible genetic alteration is a nonsense mutation in exon 2 of <jats:italic><jats:styled-content style=\"fixed-case\">ATRX<\/jats:styled-content><\/jats:italic>, the phenotype appears to be partially rescued by the production of alternative transcripts and\/or other molecular mechanisms.<\/jats:p>","DOI":"10.1111\/cge.12420","type":"journal-article","created":{"date-parts":[[2014,5,7]],"date-time":"2014-05-07T14:47:00Z","timestamp":1399474020000},"page":"461-466","source":"Crossref","is-referenced-by-count":13,"title":["Alpha\u2010thalassemia intellectual disability: variable phenotypic expression among males with a recurrent nonsense mutation\u00a0\u2013\u00a0c.<scp>109C<\/scp>&gt;T (p.<scp>R37X<\/scp>)"],"prefix":"10.1111","volume":"87","author":[{"given":"M.J.","family":"Basehore","sequence":"first","affiliation":[{"name":"Greenwood Genetic Center Molecular Diagnostic  Greenwood SC USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R.","family":"Michaelson\u2010Cohen","sequence":"additional","affiliation":[{"name":"Shaare Zedek Medical Center Department of Medical Genetics  Jerusalem Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E.","family":"Levy\u2010Lahad","sequence":"additional","affiliation":[{"name":"Shaare Zedek Medical Center Department of Medical Genetics  Jerusalem Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C.","family":"Sismani","sequence":"additional","affiliation":[{"name":"The Cyprus Institute of Neurology and Genetics Cytogenetics and Genomics  Nicosia Cyprus"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L.M.","family":"Bird","sequence":"additional","affiliation":[{"name":"University of California Dysmorphology\/Genetics  San Diego CA 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