Related Experiment Video

Updated: Jan 25, 2026

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
03:45

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model

Published on: August 8, 2022

4.2K

Compound heterozygous Pkd1l1 variants in a family with two fetuses affected by heterotaxy and complex Chd

Anna Le Fevre1, Julia Baptista2, Sian Ellard2

  • 1Department of Clinical Genetics, University Hospitals Bristol, Bristol, UK.

European Journal of Medical Genetics
|April 27, 2019
PubMed

Insights

Pathogenic variants in the PKD1L1 gene cause autosomal visceral heterotaxy type 8, a condition linked to congenital heart defects. This study identifies new PKD1L1 variants in a family, furthering understanding of this rare genetic disorder.

Area of Science:

  • Genetics
  • Developmental Biology
  • Medical Research

Background:

  • Heterotaxy and congenital heart defects (CHD) are associated with pathogenic variants in the PKD1L1 gene.
  • Autosomal visceral heterotaxy type 8 (MIM 617205) has been documented in only four individuals across three families.

Observation:

  • This report details a family with two affected fetuses presenting novel compound heterozygous pathogenic variants in the PKD1L1 gene.
  • The condition exhibits variable thoracic and abdominal situs, with diverse features of CHD and other anomalies within the family.

Findings:

  • PKD1L1 plays a crucial role in the ciliary sensation of nodal flow at the embryonic primitive node.
  • PKD1L1 is involved in restricting NODAL signaling to the left lateral plate mesoderm, essential for vertebrate laterality development.

Implications:

  • This expands the known genetic spectrum of autosomal visceral heterotaxy type 8.
  • Understanding PKD1L1's function provides insights into the genetic basis of laterality and associated congenital anomalies.

Keywords:
DextrocardiaHeterotaxyHeterotaxy syndromeHuman congenital heart diseaseIsomerismLaterality defectsPKD1L1PKD1L1 protein

More Related Videos

On-line Analysis of Nitrogen Containing Compounds in Complex Hydrocarbon Matrixes07:49

On-line Analysis of Nitrogen Containing Compounds in Complex Hydrocarbon Matrixes

Published on: August 5, 2016

11.1K
Engineering Oncogenic Heterozygous Gain-of-Function Mutations in Human Hematopoietic Stem and Progenitor Cells12:04

Engineering Oncogenic Heterozygous Gain-of-Function Mutations in Human Hematopoietic Stem and Progenitor Cells

Published on: March 10, 2023

4.8K

Related Concept Videos

Protein Families02:47

Protein Families

Protein families are groups of homologous proteins; that is, they have similarities in amino acid sequences and three-dimensional structures. Protein families usually occur because of gene duplication, where an additional copy of a gene is inserted into the genome of an organism.   Mutations that change the amino acids but still allow the protein to be properly synthesized, will lead to new protein family members.   If these new proteins contain similar amino acids in key...
16.7K
Protein Families02:47

Protein Families

4.3K
Gene Families01:57

Gene Families

Gene families consist of groups of genes proposed to have originated from a common ancestor. Typically these arise through events in which a gene or genes are mistakenly duplicated during cell division. Unlike their parent genes (which are subject to selection pressure to maintain function), these gene copies do not need to preserve their sequences and may evolve at a relatively faster rate.
Occasionally these regions can be adapted to take on new roles within the organism, becoming novel genes...
9.9K
Gene Families01:57

Gene Families

3.6K
Protein Complexes with Interchangeable Parts01:57

Protein Complexes with Interchangeable Parts

Groups of proteins may form a complex where each protein in this complex has a different role in the overall execution of the complex’s function. Often some of the proteins in the complex can be replaced by a closely related variant to give a complex that contains many of the same components yet is functionally distinct.
The SCF ubiquitin ligase is a protein complex of five individual proteins. This complex attaches ubiquitin to other target proteins to mark them for degradation. In order...
2.9K
Organic Compounds03:02

Organic Compounds

All living things are formed mostly of carbon compounds called organic compounds. The category of organic compounds includes both natural and synthetic compounds that contain carbon. Although a single, precise definition has yet to be identified by the chemistry community, most agree that a defining trait of organic molecules is the presence of carbon as the principal element, bonded to hydrogen and other carbon atoms. However, some carbon-containing compounds such as carbonates, cyanides, and...
56.9K