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Mutation Analysis of Thin Basement Membrane Nephropathy.

Yosuke Hirabayashi1, Kan Katayama1, Mutsuki Mori1

  • 1Department of Cardiology and Nephrology, Mie University Graduate School of Medicine, Tsu 514-8507, Japan.

Genes
|October 27, 2022
PubMed
Summary

Genetic analysis of thin basement membrane nephropathy (TBMN) revealed heterozygous mutations in COL4A3 or COL4A4 genes. These mutations are linked to a spectrum of kidney diseases, necessitating careful patient monitoring.

Keywords:
COL4A3COL4A4autosomal dominant Alport syndromemicrohematuriamutationthin basement membrane nephropathyvariant

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Area of Science:

  • Nephrology
  • Genetics
  • Molecular Biology

Background:

  • Thin basement membrane nephropathy (TBMN) presents with microhematuria and a thinned glomerular basement membrane.
  • Heterozygous mutations in COL4A3 or COL4A4 are primary causes of TBMN, and can also lead to focal segmental glomerulosclerosis (FSGS) or autosomal dominant Alport syndrome (ADAS).
  • Understanding the genetic basis of TBMN is crucial for diagnosing and managing associated kidney diseases.

Purpose of the Study:

  • To investigate the spectrum of genetic variants in COL4A3 and COL4A4 in patients with TBMN.
  • To evaluate the diagnostic yield of different genetic testing methods, including Sanger sequencing and exome sequencing.
  • To correlate genetic findings with clinical phenotypes ranging from TBMN to ADAS.

Main Methods:

  • Analysis of 13 TBMN cases using Sanger sequencing, multiplex ligation-dependent probe amplification (MLPA), and exome sequencing.
  • Variant classification based on American College of Medical Genetics and Genomics guidelines.
  • Identification of single nucleotide variants, splice-site variants, deletion variants, and digenic variants.

Main Results:

  • Ten heterozygous variants in COL4A3 or COL4A4 were identified in nine patients via Sanger sequencing, with three novel variants.
  • The diagnostic rate for likely pathogenic or pathogenic variants was 53.8% (7/13 patients).
  • Exome sequencing detected additional causative variants in four patients not identified by Sanger sequencing, including digenic variants in one patient.

Conclusions:

  • Heterozygous mutations in COL4A3 or COL4A4 are key genetic drivers of TBMN and related kidney disorders.
  • Exome sequencing offers a higher diagnostic yield for identifying causative variants compared to Sanger sequencing alone.
  • The wide clinical spectrum from TBMN to ADAS underscores the need for long-term monitoring of affected individuals.