J Genet Med.  2019 Jun;16(1):39-42. 10.5734/JGM.2019.16.1.39.

An ANKRD11 exonic deletion accompanied by a congenital megacolon in an infant with KBG syndrome

Affiliations
  • 1Department of Pediatrics, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea. bhlee@amc.seoul.kr
  • 2Asan Institute for Life Sciences, University of Ulsan College of Medicine, Seoul, Korea.
  • 3Department of Pathology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.
  • 4Genome Research Center, Green Cross Genome, Yongin, Korea.
  • 5Department of Pediatric Surgery, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.
  • 6Medical Genetics Center, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.

Abstract

KBG syndrome is an autosomal dominant syndrome presenting with macrodontia, distinctive facial features, skeletal anomalies, and neurological problems caused by mutations in the ankyrin repeat domain 11 (ANKRD11) gene. The diagnosis of KBG is difficult in very young infants as the characteristic macrodontia and typical facial features are not obvious. The youngest patient diagnosed to date was almost one year of age. We here describe a 2-month-old Korean boy with distinctive craniofacial features but without any evidence of macrodontia due to his very early age. He also had a congenital megacolon without ganglion cells in the rectum. A de novo deletion of exons 5–9 of the ANKRD11 gene was identified in this patient by exome sequencing and real-time genomic polymerase chain reaction. As ANKRD11 is involved in the development of myenteric plexus, a bowel movement disorder including a congenital megacolon is not surprising in a patient with KBG syndrome and has possibly been overlooked in past cases.

Keyword

KBG syndrome; ANKRD11
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