Novel compound heterozygous TBX5 variants may induce hypoplastic left heart syndrome

Pediatr Int. 2019 Jun;61(6):607-609. doi: 10.1111/ped.13854. Epub 2019 Jun 18.

Authors

Nariaki Miyao¹, Keiichi Hirono¹, Yukiko Hata², Naoki Yoshimura³, Fukiko Ichida¹

Affiliations

¹ Department of Pediatrics, University of Toyama, Toyama, Japan.
² Department of Forensic Medicine, University of Toyama, Toyama, Japan.
³ Department of Surgery 1, University of Toyama, Toyama, Japan.

PMID: 31215120
DOI: 10.1111/ped.13854

No abstract available

Keywords: Holt-Oram syndrome; TBX5; compound heterozygous; hypoplastic left heart syndrome.

Publication types

Case Reports

MeSH terms

Abnormalities, Multiple / diagnosis
Abnormalities, Multiple / genetics*
Codon, Nonsense
Genetic Markers
Heart Defects, Congenital / diagnosis
Heart Defects, Congenital / genetics*
Heart Septal Defects, Atrial / diagnosis
Heart Septal Defects, Atrial / genetics*
Heterozygote*
Humans
Hypoplastic Left Heart Syndrome / diagnosis
Hypoplastic Left Heart Syndrome / genetics*
Infant, Newborn
Lower Extremity Deformities, Congenital / diagnosis
Lower Extremity Deformities, Congenital / genetics*
Male
Mutation, Missense
T-Box Domain Proteins / genetics*
Upper Extremity Deformities, Congenital / diagnosis
Upper Extremity Deformities, Congenital / genetics*

Substances

Codon, Nonsense
Genetic Markers
T-Box Domain Proteins
T-box transcription factor 5

Supplementary concepts

Holt-Oram syndrome