An ANKRD11 exonic deletion accompanied by a congenital megacolon in an infant with KBG syndrome
Journal of Genetic Medicine
; : 39-42, 2019.
Article
in En
| WPRIM
| ID: wpr-764505
Responsible library:
WPRO
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.
Key words
Full text:
1
Index:
WPRIM
Main subject:
Rectum
/
Polymerase Chain Reaction
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Exons
/
Ankyrin Repeat
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Ganglion Cysts
/
Diagnosis
/
Exome
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Hirschsprung Disease
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Movement Disorders
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Myenteric Plexus
Type of study:
Diagnostic_studies
/
Prognostic_studies
Limits:
Humans
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Infant
/
Male
Language:
En
Journal:
Journal of Genetic Medicine
Year:
2019
Type:
Article