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Solitary median maxillary central incisor in Kabuki syndrome 2 with novel missense mutation of KDM6A and ABCC8 genes

  • Farouk B. Rihani1,*,†,
  • May M. Altayeh1,†
  • Rand Z. Al-Kilani2,†
  • Rawan A. Alrejjal1,†

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: fbrihani@yahoo.com

† These authors contributed equally.

Abstract

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.


Keywords

Hypodontia; Kabuki syndrome 2; KDM6A; Solitary central incisor


Cite and Share

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.

References

[1] Miyake N, Koshimizu E, Okamoto N, Mizuno S, Ogata T, Nagai T, et al. MLL2 and KDM6A mutations in patients with Kabuki syndrome. American Journal of Medical Genetics Part A. 2013; 161A: 2234–2243.

[2] White SM, Thompson EM, Kidd A, Savarirayan R, Turner A, Amor D, et al. Growth, behavior, and clinical findings in 27 patients with Kabuki (Niikawa-Kuroki) syndrome. American Journal of Medical Genetics Part A. 2004; 127A: 118–127.

[3] Lederer D, Grisart B, Digilio MC, Benoit V, Crespin M, Ghariani SC, et al. Deletion of KDM6a, a histone demethylase interacting with MLL2, in three patients with kabuki syndrome. The American Journal of Human Genetics. 2012; 90: 119–124.

[4] Schrander-Stumpel C, Meinecke P, Wilson G, Gillessen-Kaesbach G, Tinschert S, König R, et al. The Kabuki (Niikawa-Kuroki) syndrome: further delineation of the phenotype in 29 non-Japanese patients. European Journal of Pediatrics. 1994; 153: 438–445.

[5] Adam MP, Banka S, Bjornsson HT, Bodamer O, Chudley AE, Harris J, et al. Kabuki syndrome: international consensus diagnostic criteria. Journal of Medical Genetics. 2019; 56: 89–95.

[6] Teixeira CS, Silva CRL, Honjo RS, Bertola DR, Albano LMJ, Kim CA. Dental evaluation of Kabuki syndrome patients. The Cleft Palate Craniofacial Journal. 2009; 46: 668–673.

[7] Bögershausen N, Gatinois V, Riehmer V, Kayserili H, Becker J, Thoenes M, et al. Mutation update for Kabuki syndrome genes KMT2D and KDM6A and further delineation of X-linked Kabuki syndrome subtype 2. Human Mutation. 2016; 37: 847–864.

[8] Micale L, Augello B, Maffeo C, Selicorni A, Zucchetti F, Fusco C, et al. Molecular analysis, pathogenic mechanisms, and readthrough therapy on a large cohort of Kabuki syndrome patients. Human Mutation. 2014; 35: 841–850.

[9] Adam MP, Hudgins L. Kabuki syndrome: a review. Clinical Genetics. 2005; 67: 209–219.

[10] Hoermann H, El‐Rifai O, Schebek M, Lodefalk M, Brusgaard K, Bachmann N, et al. Comparative meta-analysis of Kabuki syndrome with and without hyperinsulinaemic hypoglycaemia. Clinical Endocrinology. 2020; 93: 346–354.

[11] Yap KL, Johnson AEK, Fischer D, Kandikatla P, Deml J, Nelakuditi V, et al. Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 10 affected individuals. Genetics in Medicine. 2019; 21: 233–242.

[12] Kjaer I, Balslev-Olesen M. The primary maxillary central incisor in the solitary median maxillary central incisor syndrome. European Journal of Paediatric Dentistry. 2012; 13: 73–75.

[13] Rocha CT, Peixoto ITA, Fernandes PM, Torres CP, de Queiroz AM. Dental findings in Kabuki make-up syndrome: a case report. Special Care in Dentistry. 2008; 28: 53–57.

[14] American Academy of Pediatric Dentistry. Use of nitrous oxide for pediatric dental patients. The Reference Manual of Pediatric Dentistry. American Academy of Pediatric Dentistry. 2021; 338–343.

[15] Digilio MC, Gnazzo M, Lepri F, Dentici ML, Pisaneschi E, Baban A, et al. Congenital heart defects in molecularly proven Kabuki syndrome patients. American Journal of Medical Genetics Part A. 2017; 173: 2912–2922.

[16] Petzold D, Kratzsch E, Opitz Ch, Tinschert S. The Kabuki syndrome: four patients with oral abnormalities. European Journal of Orthodontics. 2003; 25: 13–19.

[17] Santos CN, Cardoso MCAC, Turrioni AP, Santo ASM, Paranhos LR. Talon cusp in the temporary dentition of a patient with Kabuki syndrome: Case report with a two-year follow-up. Special Care in Dentistry. 2019; 39: 624–630.

[18] Matsune K, Shimizu T, Tohma T, Asada Y, Ohashi H, Maeda T. Craniofacial and dental characteristics of Kabuki syndrome. American Journal of Medical Genetics. 2001; 98: 185–190.

[19] Santos BMD, Ribeiro RR, Stuani AS, Silva FWGDPE, Queiroz AMD. Kabuki make-up (Niikawa-Kuroki) syndrome: dental and craniofacial findings in a Brazilian child. Brazilian Dental Journal. 2006; 17: 249–254.

[20] Takada K, Fukushima H, Watanabe S, Ishida M, Ogasawara H, Motokawa W. Occlusal guidance of two Kabuki make-up syndrome patients: case reports. Journal of Clinical Pediatric Dentistry. 2005; 28: 113–118.

[21] Hall RK. Solitary median maxillary central incisor (SMMCI) syndrome. Orphanet Journal of Rare Diseases. 2006; 1: 12.

[22] Schneider UEM, Moser L. Orthodontic space closure in a young female patient with solitary median maxillary central incisor syndrome. American Journal of Orthodontics and Dentofacial Orthopedics. 2021; 160: 132–146.

[23] Sekerci AE, Ucar FI, Gumus H, Aydinbelge M, Sisman Y. Solitary median maxillary central incisor: a report of 2 cases. Pediatric Dentistry. 2012; 34: 150–155.


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