CMU Intellectual Repository: TBX22 Mutations and Non-syndromic Orofacial Clefts, Ankyloglossia, and Hypodontia = การกลายพันธุ์ของยีนทีบอกซ์ทเวนตี้ทูกับรอยแยกบริเวณช่องปากและใบหน้า ลิ้นยึดและฟันหายโดยกำเนิด / Arunee Kaewkhampa

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Thesis Title TBX22Mutations and Non-syndromic Orofacial Clefts, Ankyloglossia, and Hypodontia

Author Mrs. Arunee Kaewkhampa

Degree Master of Science (Orthodontics)

Thesis Advisor Assoc.Prof. Dhirawat Jotikasthira

ABSTRACT

Mutations in TBX22 are known causes of cleft palate with or without ankyloglossia. TBX22 protein is a transcription factor that controls the activity of other genes. It plays essential roles during early development in the specification of cell type and in the regulation of morphogenic movement. The objective of this study is to identify mutations in TBX22 in patients with isolated and syndromic orofacial clefts, isolated ankyloglossia, and isolated hypodontia. Mutation analysis was performed in 63 patients with orofacial clefts, 23 with isolated ankyloglossia and 6 with isolated hypodontia. We identified hemizygous mutation in 452Gĺ75/

in a Thai boy and his unaffected mother and maternal grandfather. The boy had unilateral cleft lip and palate, hypodontia of a maxillary left permanent lateral incisor and a maxillary left second premolar, ankyloglossia, hypoplastic carpal bones, and hypoplastic right thumb. This mutation is located within the DNA binding domain at

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the highly conserved region of TBX22. Our study has demonstrated for the first time that TBX22mutation may be associated with not only cleft palate with ankyloglossia but also cleft lip and palate, ankyloglossia, hypodontia, and upper limb anomalies.