Syndromic craniosynostosis associated with microdeletion of chromosome 19p13.12-19p13.2  

作　　者：Sarah M.Lyon Darrel Waggoner Sara Halbach Erik C.Thorland Leila Khorasani Russell R.Reid 

机构地区：[1]Pritzker School of Medicine,University of Chicago,United States [2]Department of Human Genetics and Pediatrics,University of Chicago,5841 S.Maryland Ave,M/C 0077,Chicago,IL 60637,United States [3]Lab Medicine&Pathology,200 First St SW,Hilton 970,Rochester,MN 55905-0001,United States [4]Department of Surgery,University of Chicago,5841 S.Maryland Ave,M/C 0077,Chicago,IL 60637,United States

出　　处：《Genes & Diseases》2015年第4期347-352,共6页基因与疾病（英文）

摘　　要：Craniosynostosis,a condition in which the cranial sutures prematurely fuse,can lead to elevated intracranial pressure and craniofacial abnormalities in young children.Currently surgical intervention is the only therapeutic option for patients with this condition.Craniosynostosis has been associated with a variety of different gene mutations and chromosome anomalies.Here we describe three cases of partial deletion of chromosome 19p.Two of the cases present with syndromic craniosynostosis while one has metopic ridging.A review of the genes involved in the rearrangements between the three cases suggests several gene candidates for craniosynostosis.CALR and DAND5,BMP regulators involved in osteoblast differentiation,and MORG1,a mediator of osteoclast dysregulation may play a role in abnormal cranial vault development.Additionally,CACNA1A,a gene that when mutated is associated with epilepsy and CC2D1A,a gene associated with non-syndromic mental retardation may contribute to additional phenotypic features seen in the patients we describe.In addition,these findings further support the need for genetic testing in cases of syndromic craniosynostosis.

关 键 词：Chromosome 19 Craniofacial syndrome CRANIOSYNOSTOSIS MICROARRAY MICRODELETION 

分 类 号：R75[医药卫生—皮肤病学与性病学]