Bi-Allelic Mutations in NUP205 and NUP210 Are Associated With Abnormal Cardiac Left-Right Patterning

Circ Genom Precis Med. 2019 Jul;12(7):e002492. doi: 10.1161/CIRCGEN.119.002492. Epub 2019 Jul 15.

Authors

Weicheng Chen¹, Yuan Zhang², Sunhu Yang³, Zhiwen Shi⁴, Weijia Zeng⁴, Zhouping Lu², Xiangyu Zhou

Affiliations

¹ Pediatric Heart Center, Children's Hospital of Fudan University (W.C.).
² Clinical and Translational Research Center, Shanghai First Maternity and Infant Hospital, Tongji University (Y.Z., Z.L.).
³ Shanghai the Ninth People's Hospital, Affiliated Shanghai Jiaotong University School of Medicine (S.Y.).
⁴ School of Life Sciences, Fudan University, Shanghai, China (Z.S., W.Z.).

PMID: 31306055
DOI: 10.1161/CIRCGEN.119.002492

No abstract available

Keywords: exome; genetics; heterotaxy; human; nuclear pore complex; situs inversus.

Publication types

Letter
Research Support, Non-U.S. Gov't

MeSH terms

Adolescent
Adult
Aged
Alleles
Amino Acid Sequence
Child
Child, Preschool
Female
Heart / growth & development*
Heart Defects, Congenital / genetics*
Heart Defects, Congenital / physiopathology
Humans
Infant
Infant, Newborn
Male
Middle Aged
Mutation
Nuclear Pore Complex Proteins / genetics*
Pedigree
Young Adult

Substances

NUP210 protein, human
Nuclear Pore Complex Proteins
Nup205 protein, human