Biallelic loss-of-function variants of GFRA1 cause lethal bilateral renal agenesis

Bushra Al-Shamsi, Ghalia Al-Kasbi, Adila Al-Kindi, Zandre Bruwer, Khalsa Al-Kharusi, Almundher Al-Maawali*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

3 Citations (Scopus)


Bilateral renal agenesis belongs to a group of perinatal lethal renal diseases. To date, pathogenic variants in three genes (ITGA8, GREB1L, and FGF20) have been shown to cause renal agenesis in humans. Recently GFRA1 has been linked to a phenotype consistent with a nonsyndromic form of bilateral renal agenesis. GFRA1 encodes a member of the glial cell line-derived neurotrophic factor receptor family of proteins. The receptor on the Wolffian duct regulates ureteric bud outgrowth in developing a functional renal system. We report on four additional affected neonates from a consanguineous family who presented with a similar lethal phenotype whereby whole exome sequencing identified a homozygous deleterious sequence variant in GFRA1 (NM_005264.8:c.628G > T:p.[Gly210Ter]). The current study represents a second confirmation report on the causal association of GFRA1 pathogenic variants with lethal nonsyndromic bilateral renal agenesis in humans.

Original languageEnglish
Article number104376
JournalEuropean Journal of Medical Genetics
Issue number1
Publication statusPublished - Jan 2022


  • Exome
  • GFRA1
  • Renal agenesis

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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