The Latest on FBXO31

(also known as Kruer Syndrome)
FBXO31 Foundation News & Resources
Landmark Study Names Rare Genetic Disorder “Kruer Syndrome,” Offering Hope to Families Worldwide
April 22, 2026

Landmark Study Names Rare Genetic Disorder “Kruer Syndrome,” Offering Hope to Families Worldwide

Thank you for trusting science and for providing the foundations for something much bigger. I know we still owe you many answers to your questions, but thanks to this shared…
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Two patients in our community have been accepted to pursue ASO treatment through n-Lorem
January 16, 2026

Two patients in our community have been accepted to pursue ASO treatment through n-Lorem

View a full recording of the session and photos from the event.
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2025 FBXO31 Foundation Research Roundtable
June 16, 2025

2025 FBXO31 Foundation Research Roundtable

View a full recording of the session and photos from the event.
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FBXO31 Cure Roadmap
January 13, 2025

FBXO31 Cure Roadmap

The first step toward a cure is a treatment, and the first step toward a treatment is a research roadmap. Executive Summary The goal of the FBXO31 Cure Roadmap is…
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Inaugural FBXO31 Foundation Family Roundtable
April 24, 2024

Inaugural FBXO31 Foundation Family Roundtable

View a full recording of the session and photos from the event.
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FBXO31 Foundation launches patient registry for immediate patient enrollment
January 18, 2024

FBXO31 Foundation launches patient registry for immediate patient enrollment

Urgent Update for FBXO31 Patients Family Research Conference on April 11th Contact: info@FBXO31Foundation.org The FBXO31 Foundation was founded in response to the discovery of multiple patients identified with the same…
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Published Articles
Clinical Genetics

Expanding the Phenotypic Spectrum of the Recurrent De Novo FBXO31 p.Asp334Asn Variant: Evidence for a Novel Neurodevelopmental Disorder (Kruer Syndrome)

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The Wall Street Journal

The Genetic Answer to Rare Diseases

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Nature

C-terminal amides mark proteins for degradation via SCF–FBXO31

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EVERY CURE

Leucovorin may help with improving verbal communication in certain individuals with ASD who have a vitamin deficiency

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Perlara’s Cure Odysseys: Jan 13, 2025

FBXO31 Cure Roadmap

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JAMA Pediatrics: March 6, 2023

Diagnostic Yield of Exome Sequencing in Cerebral Palsy and Implications for Genetic Testing Guidelines

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News Medical Life Sciences: February 2, 2021

Genetic changes linked to neurodevelopmental disabilities, cerebral palsy

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Washington University School of Medicine in St. Louis: September 28, 2020

Cerebral palsy also has genetic underpinnings

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Disability Scoop: August 22, 2017

Research Points To Genetic Link To Cerebral Palsy

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