Identification of a Novel Heterozygous De Novo 7-bp Frameshift Deletion in PBX1 by Whole-Exome Sequencing Causing a Multi-Organ Syndrome Including Bilateral Dysplastic Kidneys and Hypoplastic Clavicles

Frontiers in Pediatrics

Korbinian Maria Riedhammer¹ 

关键词: CAKUT;    PBX1;    dysplastic kidneys;    hypoplastic clavicles;    developmental delay;   

DOI  :  10.3389/fped.2017.00251

学科分类：儿科学

来源: Frontiers

【 摘 要 】

IntroductionCongenital anomalies of the kidney and urinary tract (CAKUT) represent the primary cause of chronic kidney disease in children. Many genes have been attributed to the genesis of this disorder. Recently, haploinsufficiency of PBX1 caused by microdeletions has been shown to result in bilateral renal hypoplasia and other organ malformations.

【 授权许可】

CC BY