{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,23]],"date-time":"2026-10-23T03:29:36Z","timestamp":1792726176778,"version":"4.5.0"},"reference-count":29,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2014,4,3]],"date-time":"2014-04-03T00:00:00Z","timestamp":1396483200000},"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":[[2014,7]]},"abstract":"<jats:sec><jats:label\/><jats:p>Mutations in the Emopamil\u2010binding protein (<jats:italic>EBP<\/jats:italic>) gene cause X\u2010linked dominant chondrodysplasia punctata 2 (CDPX2), a disorder in which at least 95% of liveborn individuals are female and male intrauterine lethality is assumed. Several affected males with mutations in <jats:italic>EBP<\/jats:italic> have been reported. These males exhibit a phenotype similar to CDPX2 due to either somatic mosaicism or a 47, XXY karyotype in association with a null <jats:italic>EBP<\/jats:italic> allele. Alternatively, affected males may exhibit a distinct phenotype if they are hemizygous for a hypomorphic allele of <jats:italic>EBP<\/jats:italic>. Recently, we described a novel X\u2010linked phenotype associated with digital abnormalities, intellectual disability and short stature, and mapped it to Xp11.4\u2013p11.21. X\u2010exome sequencing was performed to identify the mutated gene responsible for this phenotype. A novel missense variant, c.224T&gt;A (p.I75N), was identified in <jats:italic>EBP<\/jats:italic>. SIFT and PolyPhen\u20102 predicted this change to be deleterious. The pathogenicity of this variant was subsequently supported by increased plasma levels of 8(9)\u2010cholestenol in the proband and his mother. The molecular and biochemical evidence convincingly supports the pathogenicity and association of the p.I75N mutation with this newly described phenotype. This study expands the current phenotypic spectrum of males with hypomorphic <jats:italic>EBP<\/jats:italic> mutations and supports to the hypothesis that there exists an X\u2010linked recessive entity independent of CDPX2. \u00a9 2014 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36508","type":"journal-article","created":{"date-parts":[[2014,4,3]],"date-time":"2014-04-03T20:24:52Z","timestamp":1396556692000},"page":"1642-1647","source":"Crossref","is-referenced-by-count":14,"title":["A novel <i>EBP<\/i> c.224T&gt;A mutation supports the existence of a male\u2010specific disorder independent of CDPX2"],"prefix":"10.1002","volume":"164","author":[{"given":"Mar\u00eda C.","family":"Barboza\u2010Cerda","sequence":"first","affiliation":[{"name":"Departamento de Gen\u00e9tica, Facultad de Medicina y Hospital Universitario \u201cJos\u00e9 E. Gonz\u00e1lez\u201d Universidad Aut\u00f3noma de Nuevo Le\u00f3n Monterrey Nuevo Le\u00f3n, M\u00e9xico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lee\u2010Jun","family":"Wong","sequence":"additional","affiliation":[{"name":"Medical Genetics Laboratories Department of Molecular and Human Genetics Baylor College of Medicine Houston Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura E.","family":"Mart\u00ednez\u2010de\u2010Villarreal","sequence":"additional","affiliation":[{"name":"Departamento de Gen\u00e9tica, Facultad de Medicina y Hospital Universitario \u201cJos\u00e9 E. Gonz\u00e1lez\u201d Universidad Aut\u00f3noma de Nuevo Le\u00f3n Monterrey Nuevo Le\u00f3n, M\u00e9xico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Victor Wei","family":"Zhang","sequence":"additional","affiliation":[{"name":"Medical Genetics Laboratories Department of Molecular and Human Genetics Baylor College of Medicine Houston Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Miguel A.","family":"D\u00e9ctor","sequence":"additional","affiliation":[{"name":"Departamento de Gen\u00e9tica, Facultad de Medicina y Hospital Universitario \u201cJos\u00e9 E. Gonz\u00e1lez\u201d Universidad Aut\u00f3noma de Nuevo Le\u00f3n Monterrey Nuevo Le\u00f3n, M\u00e9xico"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2014,4,3]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2133.2012.10808.x"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.10852"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35743"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35985"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/10357"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddl003"},{"key":"e_1_2_6_8_1","doi-asserted-by":"crossref","first-page":"1064","DOI":"10.1001\/archderm.1985.01660080118029","article-title":"Acute skin manifestations of Conradi\u2010Huenermann syndrome in a male adult","volume":"121","author":"Crovato F","year":"1985","journal-title":"Arch Dermatol"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1159\/000248418"},{"key":"e_1_2_6_10_1","volume-title":"GeneReviews\u2122 (Internet)","author":"Dempsey MA","year":"1993"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33674"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.270.13.7551"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20324"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33988"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/9.13.1951"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1097\/00125817-200211000-00006"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30182"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/1096-8628(20001002)94:4<300::AID-AJMG7>3.0.CO;2-3"},{"key":"e_1_2_6_19_1","unstructured":"KelleyRI MaegawaGH LeiteJC KratzL.2005. 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