Title
Author
DOI
Article Type
Special Issue
Volume
Issue
Article Menu
Export Article
More by Authors Links
Article Data
- Views 2425
- Dowloads 264
Original Research
Open AccessOrodental, Facial and Clinical Features of Mutation-Positive Noonan
Syndrome: A Monocentric Study
Orodental, Facial and Clinical Features of Mutation-Positive Noonan Syndrome: A Monocentric Study
1Department of Pediatric Genetics, Dr. Behcet Uz Children’s Hospital, Izmir, Turkey
2Department of Medical Genetics, Dr. Behcet Uz Children’s Hospital, Izmir, Turkey
3Department of Dentistry, Dr. Behcet Uz Children’s Hospital, Izmir, Turkey
4Department of Pediatric Cardiology, Dr. Behcet Uz Children’s Hospital, Izmir, Turkey
5Duzen Laboratories Group, Division of Medical Genetics, Ankara, Turkey
*Corresponding Author(s): Semra Gürsoy E-mail: dr.semra@hotmail.com
Abstract
Objective: To evaluate orodental, facial, clinical and molecular characteristics of the patients with Noonan Syndrome (NS).Study Design: The orodental, clinical and molecular characteristics of 29 mutation-positive patients with NS were recorded. Orodental examination was performed in 17 patients. All exons and exonintron boundries of PTPN11 and SOS1 genes were analyzed by Sanger sequencing. Results: A total of 29 patients with NS from 27 unrelated families were included in the study. Seventeen patients were examined by a specialist in oral medicine. The most common orodental findings were high-arched palate (n=13), gingivitis (n=6) and severe caries (n=6). Anterior open bite, posterior cross bite, Class II malocclusion, hypodontia, prognathism (maxillary or mandibular), macroglossia and gingival hyperplasia were also detected. Thirteen different mutations were observed in PTPN11 gene and exon 3 was the hotspot region. Hypodontia was detected in two patients who had the same mutation in PTPN11 gene, c.181G>A, p.D61N. Conclusion: This study indicated a high prevalance of orodental problems including high-arched palate, severe dental caries and gingivitis in patients with mutation-positive NS. The mutation in PTPN11 gene, c.181G>A, p.D61N, may be associated with hypodontia in patients with NS.
Keywords
Noonan Syndrome; PTPN11; SOS1; Dental caries; Gingivitis; Orodental
Cite and Share
Semra Gürsoy,Filiz Hazan,Bülent Kaderli ,Timur Meşe,Ajlan Tükün. Orodental, Facial and Clinical Features of Mutation-Positive Noonan Syndrome: A Monocentric Study. Journal of Clinical Pediatric Dentistry. 2020. 44(4);262-267.
References
1. Roberts AE, Allanson JE, Tartaglia M, Gelb BD. Noonan syndrome. Lancet, 381:33–342, 2013.
2. Tartaglia M, Gelb BD, Zenker M. Noonan syndrome and clinically related disorders. Best Pract Res Clin Endocrinol Metab, 25:161–79, 2011.
3. Nava C, Hanna N, Michot C et al. Cardio-faciocutaneous and Noonan syndromes due to mutations in the RAS⁄MAPK signalling pathway: genotype-phenotype relationships and overlap with Costello syndrome. J Med Genet, 44: 763–71, 2007.
4. Mallineni SK, Yiu CKY, King NM. Oral manifestations of Noonan syndrome: review of the literature and a report of four cases. Rom J Morphol Embryol, 55(4):1503–9, 2014.
5. Torres-Carmona MA, Arenas-Sordo ML, Saavedra-Ontiveros D, Sánchez-Guerrero MC. Enfermedad periodontal en el síndrome de Noonan (Periodontal disease in the Noonan syndrome), Bol Méd Hosp Infant Mex, 48(4): 271–74, 1991.
6. Emral ME, Akcam MO. Noonan syndrome: a case report, J Oral Sci; 51(2):301–306. 2009.
7. Toureno L, Park JH. Atypical orofacial conditions in Noonan syndrome: a case report, J Clin Pediatr Dent, 36(2): 197–202, 2011.
8. Romano AA, Allanson JE, Dahlgren J, et al. Noonan syndrome: clinical features, diagnosis, and management guidelines. Pediatrics, 126: 746‐59, 2010.
9. van der Burgt I, Berends E, Lommen E, et al. Clinical and molecular studies in a large Dutch family with Noonan syndrome. Am J Med Genet, 53: 187–91, 1994.
10. Aoki Y, Niihori T, Inoue S, Matsubara Y. Recent advances in RASopathies. J Hum Genet, 61: 33–9, 2016.
11. El Bouchikhi I, Belhassan K, Moufid FZ, Houssaini MI, Bouguenouch L, Samri I, et al. Noonan syndrome-causing genes: molecular update and an assessment of the mutation rate. Int J Pediatr Adolesc Med, 3:133–42, 2016.
12. Tartaglia M, Gelb BD, Zenker M. Noonan syndrome and clinically related disorders. Best Pract Res Clin Endocrinol Metab, 25(1):161-79, 2011.
13. Shoji Y, Ida S, Niihori T, et al. Genotype-phenotype correlation analysis in Japanese patients with Noonan syndrome. Endocr J, 2019 Jul 10. doi: 10.1507/endocrj.EJ18-0564. [Epub ahead of print].
14. Allanson JE, Roberts AE. Noonan Syndrome. 2001 Nov15 [Updated 2016 Feb 25]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
15. Uloopi KS, Madhuri V, Gopal AS, Vinay C, Chandrasekhar R. Multiple unerupted permanent teeth associated with Noonan Syndrome. Ann Med Health Sci Res, 5: 317‐20, 2015.
16. Noonan JA, Raaijmakers R, Hall BD. Adult height in Noonan syndrome, Am J Med Genet A, 123A(1): 68–71, 2003.
17. Scully C, Langdon J, Evans J. Marathon of eponyms: 14 Noonan syndrome. Oral Dis, 16(8): 839–40, 2010.
18. Roberts AE, Araki T, Swanson KD, Montgomery KT, Schiripo TA, Joshi VA, et al. Germline gain-of-function mutations in SOS1 cause Noonan syndrome. Nat Genet, 39:70-4, 2007.
19. Sarkozy A, Conti E, Seripa D, Digilio MC, Grifone N, Tandoi C, et al. Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromes. J Med Genet, 40:704-8, 2003.
20. Roberts AE, Allanson JE, Tartaglia M, Gelb BD. Noonan syndrome. Lancet, 381(9863):333-42, 2013.
21. Barberia Leache E, Saavedra Ontiveros D, Maroto Edo M. Etiopathogenic analysis of the caries on three patients with Noonan Syndrome. Med Oral, 8(2):136–42, 2003.
Submission Turnaround Time
Top