Hydrops fetalis in PKD1L1-related heterotaxy: Report of two foetuses and expanding the phenotypic and molecular spectrum

Ann Hum Genet. 2021 May;85(3-4):138-145. doi: 10.1111/ahg.12417. Epub 2021 Mar 2.

Abstract

Abnormalities in the normal left-right axis asymmetry range from situs inversus totalis to situs ambiguous or heterotaxy. More than 80 genes have been described to have a role in the establishment of the normal situs of the internal organs. Pathogenic variants in the PKD1L1 gene have recently been described in heterotaxy and congenital heart disease. Till date, 11 families have been described with PKD1L1-related heterotaxy. We describe the first Indian family with two affected foetuses with PKD1L1-related nonimmune hydrops, congenital heart disease, situs inversus, and heterotaxy, with biallelic variants in the compound heterozygous state.

Keywords: Heterotaxy; PKD1L1; nonimmune hydrops.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Female
  • Fetus
  • Heart Defects, Congenital / genetics
  • Heterotaxy Syndrome / genetics*
  • Heterozygote
  • Humans
  • Hydrops Fetalis / genetics*
  • India
  • Male
  • Membrane Proteins / genetics*
  • Pedigree
  • Situs Inversus / genetics

Substances

  • Membrane Proteins
  • PKD1L1 protein, human