Solitary median maxillary central incisor in Kabuki syndrome 2 with novel missense mutation of KDM6A and ABCC8 genes
1Department of Pediatric Dentistry, Magic Tooth Dental Center, 11183 Jabal Amman, Amman, Jordan
2Dental Touch Clinic, 11821 Khalda, Amman, Jordan
DOI: 10.22514/jocpd.2023.005 Vol.47,Issue 2,March 2023 pp.108-116
Submitted: 15 October 2022 Accepted: 05 December 2022
Published: 03 March 2023
*Corresponding Author(s): Farouk B. Rihani E-mail: firstname.lastname@example.org
† These authors contributed equally.
Kabuki syndrome (KS) is an epigenetic machinery multisystem disorder with peculiar facial gestalt and dental-oral anomalies. This report describes the case of a KS patient with congenital hyperinsulinism, growth hormone deficiency and novel heterogenous missense mutations in exon 25 of the KDM6A (c.3715T>G, p.Trp1239Gly) and exon 1 of the ABCC8 (c.94A>G, p.Asn32Asp) genes. She presented with solitary median maxillary central incisor (SMMCI) and mandibular incisor hypodontia, which could be a unique dental manifestation in KS 2.
Hypodontia; Kabuki syndrome 2; KDM6A; Solitary central incisor
Farouk B. Rihani,May M. Altayeh,Rand Z. Al-Kilani,Rawan A. Alrejjal. Solitary median maxillary central incisor in Kabuki syndrome 2 with novel missense mutation of KDM6A and ABCC8 genes. Journal of Clinical Pediatric Dentistry. 2023. 47(2);108-116.
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