Truncating Variants in RREB1 Cause a Novel RASopathy Syndrome of Congenital Heart Disease, Genitourinary Malformations, and Developmental Delay.

doi:10.1002/ajmg.a.64119

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Article

Truncating Variants in RREB1 Cause a Novel RASopathy Syndrome of Congenital Heart Disease, Genitourinary Malformations, and Developmental Delay.

American journal of medical genetics. Part A - 1 Oct 2025

Strong Alanna, McKenna Caoimhe, Stals Karen, Vitobello Antonio, Renaud Mathilde, Rieubland Claudine, Guipponi Michel, Philippe Christophe, Vrana Paul, Gaskell Alisa, Innes A Micheil, Rippert Alyssa L, Ahrens-Nicklas Rebecca, Bhoj Elizabeth, Keller Kiersten, Chaudhari Bimal P, Stone Brandon S

Abstract excerpt

The interstitial 6p microdeletion syndrome is characterized by dysmorphic facies and structural heart, kidney, brain, and musculoskeletal differences. RREB1 haploinsufficiency and consequent abnormal RAS-MAPK pathway signaling have been proposed as a driver of the disease phenotype; however, apart from a single case report, the phenotype of intragenic RREB1 variants is unknown. Here we present a cohort of 6...

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PMID: 40418122
DOI: 10.1002/ajmg.a.64119

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