Say-Barber-Biesecker-Yong-Simpson syndrome (SBBYSS) or Ohdo Blepharophimosis syndrome : A first Tunisian case

Abstract

KAT6B disorders include Say-Barber-Young-Simpson or Ohdo syndrome (SBBYSS) and genitopatellar syndrome (GPS). We described the first case of a newborn boy with a heterozygous pathogenic variant in KAT6B (NM_012330.3) detected by DNA sequence analysis, a nonsense variant c.5146C>T (p.(Gln1716*)), confirming Ohdo syndrome SBBYSS variant. He had the particularity of a complex laryngeal malformation not previously described in literature.