Broad spectrum of anomalies including quadricuspid aortic valve associated with a novel frameshift SALL4 variant

Piranit Kantaputra; Kittikhoon Buaban; Napaphat Thongsee; Massupa Kaewgahya; Natalina Quarto; Bruce M Carlson; Chumpol Ngamphiw; Sissades Tongsima

doi:10.1111/cge.14307

Broad spectrum of anomalies including quadricuspid aortic valve associated with a novel frameshift SALL4 variant

Clin Genet. 2023 Jul;104(1):133-135. doi: 10.1111/cge.14307. Epub 2023 Feb 21.

Authors

Piranit Kantaputra^{1

2}, Kittikhoon Buaban³, Napaphat Thongsee³, Massupa Kaewgahya¹, Natalina Quarto⁴, Bruce M Carlson⁵, Chumpol Ngamphiw⁶, Sissades Tongsima⁶

Affiliations

¹ Center of Excellence in Medical Genetics Research, Faculty of Dentistry, Chiang Mai University, Chiang Mai, Thailand.
² Division of Pediatric Dentistry, Department of Orthodontics and Pediatric Dentistry, Faculty of Dentistry, Chiang Mai University, Chiang Mai, Thailand.
³ Dental Department, Mae Ramat Hospital, Tak, Thailand.
⁴ Division of Plastic and Reconstructive Surgery, Department of Surgery, School of Medicine, Stanford University, California, USA.
⁵ Department of Anatomy and Cell Biology, University of Michigan, Ann Arbor, Michigan, USA.
⁶ National Biobank of Thailand, National Science and Technology Development Agency (NSTDA), Thailand Science Park, Pathum Thani, Thailand.

PMID: 36756699
DOI: 10.1111/cge.14307

Abstract

Each family member had a SALL4 variant. This is the first report of quadricuspid aortic valve and a genetic variant. The variation in phenotype caused by SALL4 mutations questions the division of SALL4-related phenotypes in three different entities.

Publication types

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

MeSH terms

Aortic Valve* / abnormalities
Aortic Valve* / diagnostic imaging
Frameshift Mutation / genetics
Humans
Phenotype
Quadricuspid Aortic Valve*
Transcription Factors / genetics

Substances

SALL4 protein, human
Transcription Factors