Premium
Molecular screening of the ZFHX1B gene in prenatally diagnosed isolated agenesis of the corpus callosum
Author(s) -
EspinosaParrilla Yolanda,
EnchaRazavi Férechté,
AttiéBitach Tania,
Martinovic Jelena,
MorichonDelvallez Nicole,
Munnich Arnold,
Vekemans Michel,
Lyonnet Stanislas,
Amiel Jeanne
Publication year - 2004
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.865
Subject(s) - haploinsufficiency , agenesis of the corpus callosum , corpus callosum , agenesis , corpus callosum agenesis , microcephaly , prenatal diagnosis , hypospadias , genetics , single umbilical artery , biology , medicine , anatomy , pathology , fetus , gene , pregnancy , phenotype
Abstract Objective Agenesis of the corpus callosum (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–Wilson 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 ( ZFHX1B ), 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 ZFHX1B gene in six selected cases. Methods Diagnosis of agenesis of the ACC was performed by prenatal echography survey. Screening for ZFHX1B deletions was performed by poly (CA) microsatellite markers studies and real‐time semi‐quantitative PCR. Mutational analysis was performed by single‐strand conformation polymorphisms analysis (SSCP). Results Neither deletion encompassing the ZFHX1B locus nor mutation could be detected in any of the six fetuses analysed. Conclusion ZFHX1B 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. Copyright © 2004 John Wiley & Sons, Ltd.