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Related Concept Videos

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Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
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Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
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LAMA2 and LOXL4 are candidate FSGS genes.

Poornima Vijayan1, Saidah Hack2,3, Tony Yao2,3

  • 1Department of Molecular Genetics, University of Toronto, Toronto, Canada.

BMC Nephrology
|September 27, 2021
PubMed
Summary

Genetic variants in LAMA2 and LOXL4 may cause adult-onset focal and segmental glomerulosclerosis (FSGS) through digenic inheritance. Further studies are needed to confirm the role of these genes in FSGS pathogenesis.

Keywords:
Basement membraneHereditary FSGSLAMA2LOXL4

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Area of Science:

  • Nephrology
  • Genetics
  • Molecular Biology

Background:

  • Focal and segmental glomerulosclerosis (FSGS) is a kidney disease with diverse causes.
  • Genetic factors are implicated in FSGS, yet many cases remain genetically unexplained.
  • Identifying novel genetic underpinnings of FSGS is crucial for understanding disease mechanisms.

Purpose of the Study:

  • To identify the genetic cause of adult-onset autosomal dominant FSGS in a multi-generational family.
  • To investigate potential novel gene variants contributing to FSGS pathogenesis.

Main Methods:

  • Linkage analysis was performed in 11 family members.
  • Whole exome sequencing (WES) was conducted in 3 affected individuals.
  • Segregation analysis and sequencing of candidate variants in 11 family members were performed.

Main Results:

  • Pathogenic variants in known nephropathy genes were ruled out.
  • Linkage analysis localized potential disease genes to 3% of the genome.
  • Heterozygous rare variants in LAMA2 and LOXL4 were identified as candidates, encoding glomerular extracellular matrix proteins.
  • Renal biopsies revealed FSGS lesions with altered glomerular basement membrane characteristics.

Conclusions:

  • Digenic inheritance of heterozygous variants in LAMA2 and LOXL4 is postulated to cause adult-onset FSGS.
  • Functional studies are needed to confirm the pathogenicity of identified variants.
  • This finding may aid in diagnosing FSGS cases with unexplained genetic etiology.