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

• 발행기관: 대한의학유전학회
• 저자명: Ji Hye Shin Han Hyuk Lim Mi Hyeon Gang Seon Young Kim Shin-seung Yang Mea-young Chang
• 간행물 정보: 『대한의학유전학회지』제18권 제2호, 147~151쪽, 전체 5쪽
• 주제분류: 의약학 > 기타의약학
• 파일형태: PDF
• 발행일자: 2021.12.31

영문 초록

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 ap-pearance, 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-devel-oped.

목차

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키워드

Say-Barber-Biesecker-Young-Simpson syndrome KAT6B protein