Say-Barber-Biesecker-Yong-Simpson syndrome (SBBYSS) or Ohdo Blepharophimosis syndrome

2024/12/31 by Selmi, I., Azzabi O, Kanzari J +4

paper · doi:10.71566/pist-rmp-194779

Abstract

KAT6B disorders include Say-Barber-Young-Simpson of Ohdo syndrome (SBBYSS) and genitopatellar syn- drome (GPS) which are part of a braod phenotypic spectrum with variable expressivity. We described the first case of a newborn boy, in whom a molecular study was performed and a heterozygous pathogenic variant was detected in the KAT6B (NM₀12330. 3) by DNA sequence analysis. It was a nonsense variant, c. 5146C>T (p. (Gln1716*)) and this result confirm the diagnosis of Ohdo syndrome, SBBYSS variant. He had the particularity of presenting a complex laryngeal malformation, which has not been described in previous cases.

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