{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T06:05:21Z","timestamp":1761717921764},"reference-count":21,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2004,3,30]],"date-time":"2004-03-30T00:00:00Z","timestamp":1080604800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2004,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>Agenesis of the <jats:italic>corpus callosum<\/jats:italic> (ACC) is the most common malformation of the central nervous system and may be associated with mental retardation. ACC is found in 40% of the cases of Mowat\u2013Wilson syndrome (MWS), a polytopic embryonic defect including a distinctive facial gestalt, severe mental retardation, epilepsy and postnatal microcephaly as constant features. Other manifestations involve Hirschsprung disease, cardiac defects, renal abnormalities and hypospadias. Among this broad spectrum of malformations recently associated with haploinsufficiency of the zinc finger homeobox 1B gene (<jats:italic>ZFHX1B<\/jats:italic>), ACC can therefore be the only feature to be detected prenatally. Thus, we studied a group of 18 fetuses terminated for ACC and performed mutational analysis of the <jats:italic>ZFHX1B<\/jats:italic> gene in six selected cases.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Diagnosis of agenesis of the ACC was performed by prenatal echography survey. Screening for <jats:italic>ZFHX1B<\/jats:italic> deletions was performed by poly (CA) microsatellite markers studies and real\u2010time semi\u2010quantitative PCR. Mutational analysis was performed by single\u2010strand conformation polymorphisms analysis (SSCP).<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Neither deletion encompassing the <jats:italic>ZFHX1B<\/jats:italic> locus nor mutation could be detected in any of the six fetuses analysed.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p><jats:italic>ZFHX1B<\/jats:italic> is not a major gene in isolated ACC. However, analysis of MWS should be considered in the differential diagnosis of ACC, especially when the facial features raise the possibility of MWS. 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