Prune belly syndrome in surviving males can be caused by Hemizygous missense mutations in the X-linked Filamin A gene
作者: Nida S. IqbalThomas A. JascurSteven M. HarrisonAngelena B. EdwardsLuke T. SmithErin S. ChoiMichelle K. ArevaloCatherine ChenShaohua ZhangAdam J. KernAngela E. ScheuerleEmma J. SanchezChao XingLinda A. Baker
作者单位: 1Department of Urology, University of Texas Southwestern Medical Center, 5323 Harry Hines Blvd, 75390, Dallas, TX, USA
2Broad Institute of MIT and Harvard, Cambridge, MA, USA
3Department of Pediatrics, University of Texas Southwestern Medical Center, 5323 Harry Hines Blvd, 75390, Dallas, TX, USA
4McDermott Center for Human Growth and Development, Department of Bioinformatics, Department of Clinical Sciences, University of Texas Southwestern Medical Center, 5323 Harry Hines Blvd, 75390, Dallas, TX, USA
5Children’s Health Dallas, 2350 N. Stemmons Freeway, Suite F4300, 75207, Dallas, TX, USA
刊名: BMC Medical Genetics, 2020, Vol.21 (5), pp.44-48
来源数据库: Springer Nature Journal
DOI: 10.1186/s12881-020-0973-x
关键词: Prune belly syndromeFLNASequencing
原始语种摘要: Abstract(#br)Background(#br)Prune belly syndrome (PBS) is a rare, multi-system congenital myopathy primarily affecting males that is poorly described genetically. Phenotypically, its morbidity spans from mild to lethal, however, all isolated PBS cases manifest three cardinal pathological features: 1) wrinkled flaccid ventral abdominal wall with skeletal muscle deficiency, 2) urinary tract dilation with poorly contractile smooth muscle, and 3) intra-abdominal undescended testes. Despite evidence for a genetic basis, previously reported PBS autosomal candidate genes only account for one consanguineous family and single cases. Methods(#br)We performed whole exome sequencing (WES) of two maternal adult half-brothers with syndromic PBS (PBS + Otopalatodigital spectrum disorder [OPDSD]) and two...
全文获取路径: Springer Nature  (合作)
分享到:
来源刊物:
影响因子:2.536 (2012)

×