J Genet Med.  2021 Dec;18(2):147-151. 10.5734/JGM.2021.18.2.147.

A neonate with Say–Barber–Biesecker–Young– Simpson syndrome with a novel pathogenic mutation in KAT6B gene: A case report

• Shin JH
• Lim HH
• Gang MH
• Kim SY
• Yang Ss
• Chang My

• KMID: 2524743
• DOI: http://doi.org/10.5734/JGM.2021.18.2.147

Abstract

The Say–Barber–Biesecker–Young–Simpson variant of Ohdo syndrome (SBBYSS) (Online Mendelian Inheritance in Man #603736) is a rare autosomal dominant disorder and clinically features blepharophimosis with ptosis, a mask-like facial appearance, cryptorchidism, congenital heart defect, long thumbs/great toes, and thyroid dysfunction. The etiology of SBBYSS has been shown to be due to heterozygous KAT6B gene mutation. Here we report a case of a neonate with SBBYSS identified a novel mutation in KAT6B gene. The patient showed typical dysmorphic facies, cryptorchidism with micropenis, overriding fingers, and long thumbs and toes at birth. He had also hypothyroidism, large atrial septal defect, and sensorineural hearing loss. The next generation sequencing identified a heterozygous novel variant, c.5206C>T (p.Gln1736Ter) in KAT6B gene. At the 9 months of age, he underwent patch closure for atrial septal defect. Until the 12-month follow-up, he was under-developed.

Keyword

Say–Barber–Biesecker–Young–Simpson syndrome; KAT6B protein