
An ANKRD11 exonic deletion accompanied by a congenital megacolon in an infant with KBG syndrome
- Go Hun Seo Arum Oh Minji Kang Eun Na Kim Ja-Hyun Jang Dae Yeon Kim Kyung Mo Kim Han-Wook Yoo Beom Hee Lee
- 대한의학유전학회
- 대한의학유전학회지
- 제16권 제1호
- 등재여부 : KCI등재
- 2019.06
- 39 - 42 (4 pages)
KBG syndrome is an autosomal dominant syndrome presenting with macrodontia, distinctive facial features, skeletal anoma-lies, 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 craniofa-cial 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.
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