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Related Experiment Video

Updated: Dec 15, 2025

In Vivo Modeling of the Morbid Human Genome using Danio rerio
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A Genetics-First Approach Revealed Monogenic Disorders in Patients With ARM and VACTERL Anomalies.

Romy van de Putte1, Gabriel C Dworschak2,3, Erwin Brosens4,5

  • 1Department for Health Evidence, Radboud Institute for Health Sciences, Radboud University Medical Center, Nijmegen, Netherlands.

Frontiers in Pediatrics
|July 14, 2020
PubMed
Summary

A genetics-first approach identified pathogenic variants in SALL1, SALL4, and MID1 in 1.4% of patients with VACTERL spectrum conditions. This refined diagnoses and impacted family counseling, highlighting the importance of molecular diagnostics.

Keywords:
Opitz-G/BBB syndromeanorectal malformationsduane-radial ray syndromeesophageal atresiagenetics-firstmolecular inversion probetownes-brocks syndrome

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Area of Science:

  • Genetics and Genomics
  • Developmental Biology
  • Clinical Medicine

Background:

  • VATER/VACTERL association (VACTERL) involves non-random congenital anomalies: Vertebral, Anal, Cardiac, Tracheal-Esophageal, Renal, and Limb.
  • Current VACTERL diagnosis is phenotypic, lacking identified unequivocal candidate genes.
  • Study investigates monogenic disorders within VACTERL spectrum using a genetics-first approach.

Purpose of the Study:

  • To identify VACTERL patients with monogenic disorders via a genetics-first strategy.
  • To assess candidate gene variants' role in VACTERL, Anorectal malformation (ARM), or Esophageal atresia with or without Trachea-esophageal fistula (EA/TEF).

Main Methods:

  • Sequenced a 56-gene candidate panel in 510 patients across VACTERL, ARM, and EA/TEF groups using molecular inversion probes.
  • Prioritized and validated loss-of-function and pathogenic missense variants via Sanger sequencing.
  • Conducted segregation analysis and clinical re-evaluation of patients with identified variants.

Main Results:

  • Identified pathogenic or likely pathogenic variants in SALL1, SALL4, and MID1 in 7/510 patients (1.4%).
  • These genes are linked to Townes-Brocks, Duane-radial-ray, and Opitz-G/BBB syndromes, which include ARM or EA/TEF plus other VACTERL features.
  • No loss-of-function variants were found in other candidate genes; no novel unequivocal disease genes for VACTERL were identified.

Conclusions:

  • A genetics-first approach refined clinical diagnoses in seven patients, revealing alternative molecular-based diagnoses.
  • The identified variants have significant implications for genetic counseling of affected families.
  • This study underscores the value of molecular diagnostics in understanding VACTERL spectrum disorders.