{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T11:31:06Z","timestamp":1790767866780,"version":"4.1.0"},"reference-count":17,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2016,9,20]],"date-time":"2016-09-20T00:00:00Z","timestamp":1474329600000},"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":[[2017,1]]},"abstract":"<jats:sec>\n                    <jats:label\/>\n                    <jats:p>\n                      Hand\u2013Foot\u2013Genital syndrome is a rare autosomal dominant condition characterized by distal limb anomalies and urogenital malformations. This disorder is associated with loss\u2010of\u2010function mutations in the\n                      <jats:italic>HOXA13<\/jats:italic>\n                      gene.\n                      <jats:italic>HOXA13<\/jats:italic>\n                      plays an important role in the development of distal limbs and lower genitourinary tract of the fetus. We report a novel familial 589\u2009kb deletion in the 7p15.2 region identified in a male toddler and his mother. The proband had severe penoscrotal hypospadias, mild skeletal anomalies of the hands and feet, cardiac, renal, and gastrointestinal anomalies. His mother had a bicornuate uterus, cervical incompetence, and minor anomalies of her hands and feet. This family was found to have the smallest reported deletion of 7p15.2 to date, and presented with features typical of Hand\u2013Foot\u2013Genital syndrome in the mother, but much more severe phenotype in her son. This deletion included the entire\n                      <jats:italic>HOXA<\/jats:italic>\n                      cluster in addition to the\n                      <jats:italic>SKAP2<\/jats:italic>\n                      and\n                      <jats:italic>EVX1<\/jats:italic>\n                      genes. An RT\u2010PCR analysis was performed to determine the expression of the\n                      <jats:italic>HOXA<\/jats:italic>\n                      genes in the proband and to explore a parent\u2010of\u2010origin effect. Our expression studies did not support the hypothesis of an imprinted status of the\n                      <jats:italic>HOXA2<\/jats:italic>\n                      ,\n                      <jats:italic>HOXA3<\/jats:italic>\n                      ,\n                      <jats:italic>HOXA5<\/jats:italic>\n                      , and\n                      <jats:italic>HOXA11<\/jats:italic>\n                      genes in peripheral blood. To our knowledge, this is the first familial 7p15.2 deletion. This family raises possibility for sexual dimorphism as a mechanism for phenotypic variability in patients with the\n                      <jats:italic>HOXA<\/jats:italic>\n                      gene cluster deletions. \u00a9 2016 Wiley Periodicals, Inc.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/ajmg.a.37981","type":"journal-article","created":{"date-parts":[[2016,9,20]],"date-time":"2016-09-20T09:52:58Z","timestamp":1474365178000},"page":"221-224","source":"Crossref","is-referenced-by-count":10,"title":["Familial deletion of the\n                    <i>HOXA<\/i>\n                    gene cluster associated with Hand\u2013Foot\u2013Genital syndrome and phenotypic variability"],"prefix":"10.1002","volume":"173","author":[{"given":"Emir","family":"Tas","sequence":"first","affiliation":[{"name":"Pediatric Endocrinology Children's Hospital of Pittsburgh of UPMC Pittsburgh Pennsylvania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jessica","family":"Sebastian","sequence":"additional","affiliation":[{"name":"Medical Genetics Children's Hospital of Pittsburgh of UPMC Pittsburgh Pennsylvania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Suneeta","family":"Madan\u2010Khetarpal","sequence":"additional","affiliation":[{"name":"Medical Genetics Children's Hospital of Pittsburgh of UPMC Pittsburgh Pennsylvania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Philip","family":"Sweet","sequence":"additional","affiliation":[{"name":"Kenneth P. Dietrich School of Arts and Sciences University of Pittsburgh Pittsburgh Pennsylvania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexander N.","family":"Yatsenko","sequence":"additional","affiliation":[{"name":"Department of Obstetrics Gynecology and Reproductive Sciences University of Pittsburgh Pittsburgh Pennsylvania"},{"name":"Magee\u2010Womens Research Institute Pittsburgh Pennsylvania"},{"name":"Department of Pathology University of Pittsburgh School of Medicine Pittsburgh Pennsylvania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nijole","family":"Pollock","sequence":"additional","affiliation":[{"name":"Department of Obstetrics Gynecology and Reproductive Sciences University of Pittsburgh Pittsburgh Pennsylvania"},{"name":"Magee\u2010Womens Research Institute Pittsburgh Pennsylvania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aleksandar","family":"Rajkovic","sequence":"additional","affiliation":[{"name":"Department of Obstetrics Gynecology and Reproductive Sciences University of Pittsburgh Pittsburgh Pennsylvania"},{"name":"Magee\u2010Womens Research Institute Pittsburgh Pennsylvania"},{"name":"Department of Pathology University of Pittsburgh School of Medicine Pittsburgh Pennsylvania"},{"name":"Department of Human Genetics Graduate School of Public Health University of Pittsburgh Pittsburgh Pennsylvania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francis X.","family":"Schneck","sequence":"additional","affiliation":[{"name":"Pediatric Urology Children's Hospital of Pittsburgh of UPMC Pittsburgh Pennsylvania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Svetlana A.","family":"Yatsenko","sequence":"additional","affiliation":[{"name":"Department of Obstetrics Gynecology and Reproductive Sciences University of Pittsburgh Pittsburgh Pennsylvania"},{"name":"Department of Pathology University of Pittsburgh School of Medicine Pittsburgh Pennsylvania"},{"name":"Department of Human Genetics Graduate School of Public Health University of Pittsburgh Pittsburgh Pennsylvania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Selma Feldman","family":"Witchel","sequence":"additional","affiliation":[{"name":"Pediatric Endocrinology Children's Hospital of Pittsburgh of UPMC Pittsburgh Pennsylvania"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2016,9,20]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1086\/302452"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320440419"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-004-1174-y"},{"key":"e_1_2_8_5_1","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1159\/000334313","article-title":"Severe developmental delay in a patient with 7p21.1\u2010p14.3 microdeletion spanning the TWIST gene and the HOXA gene 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