Article
Expanding the Phenotypic Spectrum of the Recurrent De Novo FBXO31 p.Asp334Asn Variant: Evidence for a Novel Neurodevelopmental Disorder (Kruer Syndrome).
Clinical genetics - 1 Aug 2026
Galaz-Montoya Carolina I, Lewis Sara A, Galindo Maureen K, Cornejo Patricia, Skidmore Peter T, Bisarad Pritha, Magee Helen, Bontempo Kelly, Keren Boris, Afenjar Alexandra, Skorvanek Matej, Zech Michael, Wentzensen Ingrid M, Gurnett Christina A, Chung Wendy K, Bakhtiari Somayeh, Kruer Michael C
Abstract excerpt
Biallelic loss-of-function variants in FBXO31 cause autosomal-recessive intellectual disability. A recurrent de novo variant, c.1000G>A(p.Asp334Asn), has been described in association with an autosomal-dominant phenotype. To refine this phenotype and its clinical implications, we re-evaluated three published cases and ascertained four additional probands via advocacy networks, GeneMatcher, and clinician referral....
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