Title

MMP21 is mutated in human heterotaxy and is required for normal left-right asymmetry in vertebrates.

Document Type

Article

Publication Date

11-2015

JAX Source

Nat Genet 2015 Nov; 47(11):1260-3.

PMID

26437028

Abstract

Heterotaxy results from a failure to establish normal left-right asymmetry early in embryonic development. By whole-exome sequencing, whole-genome sequencing and high-throughput cohort resequencing, we identified recessive mutations in MMP21 (encoding matrix metallopeptidase 21) in nine index cases with heterotaxy. In addition, Mmp21-mutant mice and mmp21-morphant zebrafish displayed heterotaxy and abnormal cardiac looping, respectively, suggesting a new role for extracellular matrix remodeling in the establishment of laterality in vertebrates. Nat Genet 2015 Nov; 47(11):1260-3.