Article
A novel truncating variant within exon 7 of KAT6B associated with features of both Say-Barber-Bieseker-Young-Simpson syndrome and genitopatellar syndrome: Further evidence of a continuum in the clinical spectrum of KAT6B-related disorders.
American journal of medical genetics. Part A - 1 Feb 2018
Marangi Giuseppe, Di Giacomo Marilena C, Lattante Serena, Orteschi Daniela, Patrizi Sara, Doronzio Paolo N, Riviello Francesco N, Vaisfeld Alessandro, Frangella Silvia, Zollino Marcella
Abstract excerpt
KAT6B sequence variants have been identified in both patients with the Say-Barber-Biesecker-Young-Simpson syndrome (SBBYSS) and in the genitopatellar syndrome (GPS). In SBBYSS, they were reported to affect mostly exons 16-18 of KAT6B, and the predicted mechanism of pathogenesis was haploinsufficiency or a partial loss of protein function. Truncating variants in KAT6B leading to GPS appear to cluster within the...
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