Prenatal Diagnosis of Townes-Brocks Syndrome with Multicystic Renal Dysplasia: A Multisystem Genomic Perspective

Authors

  • Miguel Martins Gynecology and Obstetrics Department, Unidade Local de Saúde de Trás-os-Montes e Alto Douro https://orcid.org/0009-0006-2252-1394
  • Beatriz Sousa Ferreira Gynecology and Obstetrics Department, Unidade Local de Saúde de Trás-os-Montes e Alto Douro https://orcid.org/0000-0002-4468-9642
  • Rosário Almeida Lopes Gynecology and Obstetrics Department, Unidade Local de Saúde de Trás-os-Montes e Alto Douro
  • Ana Isabel Correia Gynecology and Obstetrics Department, Unidade Local de Saúde de Trás-os-Montes e Alto Douro https://orcid.org/0000-0002-7762-153X
  • Rosário Pinto Leite Genetics Department, Unidade Local de Saúde de Trás-os-Montes e Alto Douro https://orcid.org/0000-0003-4128-0494
  • Márcia Martins Genetics Department, Unidade Local de Saúde de Trás-os-Montes e Alto Douro
  • Rosete Nogueira Escola de Medicina da Universidade do Minho; Instituto de investigação de ciências da vida e saúde (ICVS); ICVS/3B´s PT Laboratório Associado; Placental and Embryo-Fetal Pathology Unit, LAP, Unilabs
  • Osvaldo Moutinho Gynecology and Obstetrics Department, Unidade Local de Saúde de Trás-os-Montes e Alto Douro

DOI:

https://doi.org/10.25753/BirthGrowthMJ.v35.i1.42064

Keywords:

case report, fetal anomalies, genomics, multicystic renal dysplasia, prenatal diagnosis and autopsy correlation, sall1, townes-brocks syndrome

Abstract

Background: Townes-Brocks syndrome (TBS) is a rare autosomal-dominant disorder characterized by the anal-auricular-digital triad and frequent renal anomalies.
Case Presentation: A male fetus was first examined at 18w3d, showing unilateral multicystic renal dysplasia and preaxial polydactyly. Standard karyotype (46,XY) and chromosomal
microarray (Agilent 4 × 180 K) were normal. Rapid trio-exome sequencing detected a de novo truncating SALL1 variant (c.1147_1151del), confirming the diagnosis of TBS. After multidisciplinary counselling, medical termination of pregnancy was performed at 23w6d.
Fetal autopsy confirmed sonographic findings and additionally disclosed intestinal malrotation.
Discussion: This case illustrates the diagnostic value of prenatal exome analysis in fetuses with atypical renal and limb anomalies and underscores that recognizing the classic anal-auricular-digital pattern remains pivotal.
Conclusion: When multicystic renal dysplasia coexists with imperforate anus and preaxial limb defects, targeted SALL1 gene analysis should be prioritized. Integrating imaging, genomics and autopsy enables precise phenotyping and informed recurrence-risk assessment.

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References

Kohlhase J, Wischermann A, Reichenbach H, Froster U, Engel W. High incidence of the R276X SALL1 mutation in sporadic Townes-Brocks syndrome. Hum Mutat. 2003;22:378-380.

Lin FJ, Lu W, Gale D, Yao Y, Zou R, Bian F, et al. Delayed diagnosis of Townes-Brocks syndrome with multicystic kidneys and renal failure caused by a novel SALL1 nonsense mutation: A case report. Exp Ther Med. 2016 Apr;11(4):1249-1252. Doi: https://doi.org/10.3892/etm.2016.3035.

Liberalesso PBN, de Campos TE, Medeiros PFV, et al. Phenotypic and genotypic aspects of Townes-Brocks syndrome in Brazilian patients. Eur J Med Genet. 2017;60:195-200.

Innoceta AM, Romano MT, Sirleto P, et al. Chromosomal microarray identifies novel SALL1 deletion in Townes-Brocks syndrome. Clin Dysmorphol. 2023;32:148-151.

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Published

2026-06-05

How to Cite

1.
Martins M, Ferreira BS, Lopes RA, Correia AI, Leite RP, Martins M, et al. Prenatal Diagnosis of Townes-Brocks Syndrome with Multicystic Renal Dysplasia: A Multisystem Genomic Perspective. BGMJ [Internet]. 2026 Jun. 5 [cited 2026 Jun. 6];35(1):47-50. Available from: https://revistas.rcaap.pt/bgmj/article/view/42064

Issue

Vol. 35 No. 1 (2026)

Section

Clinical Case Reports

License

Copyright (c) 2026 Miguel Martins

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