Identification of a novel ZIC3 isoform and mutation screening in patients with heterotaxy and congenital heart disease.

ABSTRACT: Patients with heterotaxy have characteristic cardiovascular malformations, abnormal arrangement of their visceral organs, and midline patterning defects that result from abnormal left-right patterning during embryogenesis. Loss of function of the transcription factor ZIC3 causes X-linked heterotaxy and isolated congenital heart malformations and represents one of the few known monogenic causes of congenital heart disease. The birth incidence of heterotaxy-spectrum malformations is significantly higher in males, but our previous work indicated that mutations within ZIC3 did not account for the male over-representation. Therefore, cross species comparative sequence alignment was used to identify a putative novel fourth exon, and the existence of a novel alternatively spliced transcript was c

SUBMITTER: Bedard JE 

PROVIDER: S-EPMC3157443 | biostudies-literature | 2011

REPOSITORIES: biostudies-literature