This article reviews recent molecular genetic findings in @entity74 . A mutation in the homeotic gene @entity21506 was the first genetic defect identified in an autosomal dominant primary @entity91 , i.e. in @entity20917 (Boston type). In the more common syndromes of @entity2168 , Jackson-Weiss, and Apert, mutations were found in the gene coding for fibroblast growth factor receptor (FGFR) 2. Less frequently, mutations are observed in @entity7167 and @entity2557 in some cases of @entity2168 . The mutations identified in @entity7991 are located in exons 5 and 7 of the gene that code for immunoglobulin (Ig)-like chain III and the region linking Ig II and Ig III of the receptor. These domains of the receptor are important for ligand binding. Apart from @entity4886 , identical mutations are found in the clinically distinct @entity2168 . Furthermore, the same gene defect can result in a highly variable phenotype even within one family. Therefore, the clinically distinct @entity751 are extremes of a spectrum of @entity2122 and not nosologic entities. In @entity4886 , the gene coding for transcription factor @entity8945 is mutated. The disease genes identified in @entity751 to date either regulate transcription or are required for signal transduction and play a central role in the development of the calvarial sutures.

Molecular genetics of XXXX .

@entity2122 :: ('MESH:D019465', 'Disease') :: ['craniofacial abnormalities'] @entity2557 :: ('2261', 'Gene') :: ['FGFR3'] @entity4886 :: ('MESH:D000168', 'Disease') :: ['Saethre-Chotzen syndrome', 'Apert syndrome'] @entity2168 :: ('MESH:D003394', 'Disease') :: ['Crouzon and Pfeiffer syndrome', 'syndromes of Crouzon, Pfeiffer, and Jackson-Weiss', 'Crouzon, Pfeiffer'] @entity20917 :: ('MESH:C565753', 'Disease') :: ['craniosynostosis type 2'] @entity21506 :: ('4488', 'Gene') :: ['MSX2'] @entity7991 :: ('2263', 'Gene') :: ['FGFR2'] @entity74 :: ('MESH:D030342', 'Disease') :: ['autosomal dominant craniosynostotic syndromes'] @entity751 :: ('MESH:D013577', 'Disease') :: ['craniosynostotic syndromes'] @entity91 :: ('MESH:D003398', 'Disease') :: ['craniosynostosis'] @entity8945 :: ('7291', 'Gene') :: ['TWIST'] @entity7167 :: ('2260', 'Gene') :: ['FGFR1']
@entity751 :: (MESH:D013577,Disease) :: ['craniosynostotic syndromes']
