{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,19]],"date-time":"2026-09-19T01:17:44Z","timestamp":1789780664212,"version":"4.0.1"},"reference-count":29,"publisher":"BMJ","issue":"11","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"accepted":{"date-parts":[[2012,9,21]]},"published-print":{"date-parts":[[2012,11]]},"abstract":"<jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      Acrocallosal syndrome (ACLS) is a rare recessive disorder characterised by corpus callosum agenesis or hypoplasia, craniofacial dysmorphism, duplication of the hallux, postaxial polydactyly, and severe mental retardation. Recently, we identified mutations in\n                      <jats:italic>KIF7<\/jats:italic>\n                      , a key component of the Sonic hedgehog pathway, as being responsible for this syndrome.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      We sequenced\n                      <jats:italic>KIF7<\/jats:italic>\n                      in five suspected ACLS cases, one fetus and four patients, based on facial dysmorphism and brain anomalies.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Seven mutations were identified at the\n                      <jats:italic>KIF7<\/jats:italic>\n                      locus in these five cases, six of which are novel. We describe the first four compound heterozygous cases. In all patients, the diagnosis was suspected based on the craniofacial features, despite the absence of corpus callosum anomaly in one and of polydactyly in another. Hallux duplication was absent in 4\/5 cases.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>\n                      These results show that ACLS has a variable expressivity and can be diagnosed even in the absence of the two major features, namely polydactyly or agenesis or hypoplasia of the corpus callosum. Facial dysmorphism with hypertelorism and prominent forehead in all the cases, as well as vermis dysgenesis with brainstem anomalies (molar tooth sign), strongly indicated the diagnosis.\n                      <jats:italic>KIF7<\/jats:italic>\n                      should be tested in less typical patients in whom craniofacial features are suggestive of ACLS.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1136\/jmedgenet-2012-101016","type":"journal-article","created":{"date-parts":[[2012,11,2]],"date-time":"2012-11-02T05:10:19Z","timestamp":1351833019000},"page":"713-720","source":"Crossref","is-referenced-by-count":36,"title":["Novel\n                    <i>KIF7<\/i>\n                    mutations extend the phenotypic spectrum of acrocallosal syndrome"],"prefix":"10.1136","volume":"49","author":[{"given":"Audrey","family":"Putoux","sequence":"first","affiliation":[{"name":"INSERM U-781, H\u00f4pital Necker-Enfants Malades, Paris, France"},{"name":"Universit\u00e9 Paris Descartes, Paris Sorbonne Cit\u00e9, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sheela","family":"Nampoothiri","sequence":"additional","affiliation":[{"name":"Department of Pediatric Genetics, Amrita Institute of Medical Sciences, Kerala, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicole","family":"Laurent","sequence":"additional","affiliation":[{"name":"Service d'Anatomie Pathologique, CHU Dijon, Dijon, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Val\u00e9rie","family":"Cormier-Daire","sequence":"additional","affiliation":[{"name":"INSERM U-781, H\u00f4pital Necker-Enfants Malades, Paris, France"},{"name":"Universit\u00e9 Paris Descartes, Paris Sorbonne Cit\u00e9, Paris, France"},{"name":"D\u00e9partement de G\u00e9n\u00e9tique, H\u00f4pital Necker-Enfants Malades, Assistance Publique H\u00f4pitaux de Paris (AP-HP), Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Philip L","family":"Beales","sequence":"additional","affiliation":[{"name":"Molecular Medicine Unit, University College London (UCL) Institute of Child Health, London, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Albert","family":"Schinzel","sequence":"additional","affiliation":[{"name":"Institute of Medical Genetics, University of Zurich, Schwerzenbach, Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Deborah","family":"Bartholdi","sequence":"additional","affiliation":[{"name":"Institute of Medical Genetics, University of Zurich, Schwerzenbach, Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Caroline","family":"Alby","sequence":"additional","affiliation":[{"name":"INSERM U-781, H\u00f4pital Necker-Enfants Malades, Paris, France"},{"name":"Universit\u00e9 Paris Descartes, Paris Sorbonne Cit\u00e9, Paris, France"},{"name":"Service de Gyn\u00e9cologie Obst\u00e9trique, H\u00f4pital Necker Enfants Malades, AP-HP, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sophie","family":"Thomas","sequence":"additional","affiliation":[{"name":"INSERM U-781, H\u00f4pital Necker-Enfants Malades, Paris, France"},{"name":"Universit\u00e9 Paris Descartes, Paris Sorbonne Cit\u00e9, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nadia","family":"Elkhartoufi","sequence":"additional","affiliation":[{"name":"D\u00e9partement de G\u00e9n\u00e9tique, H\u00f4pital Necker-Enfants Malades, Assistance Publique H\u00f4pitaux de Paris (AP-HP), Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amale","family":"Ichkou","sequence":"additional","affiliation":[{"name":"D\u00e9partement de G\u00e9n\u00e9tique, H\u00f4pital Necker-Enfants Malades, Assistance Publique H\u00f4pitaux de Paris (AP-HP), Paris, 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