A novel de novo pathogenic variant in TBL1XR1 as a new proposed cause of Pierpont syndrome.

Abstract excerpt

TBL1XR1, which encodes transducing β-like 1 X-linked receptor 1, is implicated in both Pierpont syndrome and intellectual developmental disorder, autosomal dominant-41 (MRD-41, OMIM #616944). While both conditions are autosomal dominant, variants associated with Pierpont syndrome are believed to behave in a dominant negative fashion, whereas those causing MRD-41 result in haploinsufficiency. Here, we present a...

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