Journal of Genetic Medicine

  • 제18권2호
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  • Pages.147-151
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  • 2021
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  • 1226-1769(pISSN)
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  • 2383-8442(eISSN)
대한의학유전학회 (Korean Society of Medical Genetics and Genomics)
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A neonate with Say-Barber-Biesecker-Young-Simpson syndrome with a novel pathogenic mutation in KAT6B gene: A case report

  • Shin, Ji Hye (Department of Pediatrics, Chungnam National University Hospital) ;
  • Lim, Han Hyuk (Department of Pediatrics, Chungnam National University Hospital) ;
  • Gang, Mi Hyeon (Department of Pediatrics, Chungnam National University Hospital) ;
  • Kim, Seon Young (Department of Laboratory Medicine, Chungnam National University College of Medicine) ;
  • Yang, Shin-seung (Department of Physical Medicine and Rehabilitation, Chungnam National University Hospital) ;
  • Chang, Mea-young (Department of Pediatrics, Chungnam National University Hospital)
  • 투고 : 2021.10.16
  • 심사 : 2021.11.15
  • 발행 : 2021.12.31
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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 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.

키워드

과제정보

This work was supported by research fund of Chungnam National University.

참고문헌

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