TBX22, X-linked Cleft Palate, and Ankyloglossia
- DOI:
- 10.1093/med/9780199934522.003.0122
Orofacial clefts affecting the lip and/or palate are among the most common birth defects worldwide (1/700 live births) and are understood to result from a wide variety of genetic and environmental causes. There are several commonly applied distinctions that classify orofacial clefts, namely cleft lip with or without cleft palate (CL/P) and cleft palate alone (CP), which are both further subdivided as syndromic or non-syndromic. X-linked cleft palate and ankyloglossia (CPX; MIM303400) was originally recognized in several large families of native North American and Icelandic origin (Lowry, 1970; Bjornsson et al., 1989) and was studied as a clear, although potentially rare Mendelian trait. Subsequently, mutations in the gene encoding the T-box transcription factor TBX22 were found to underlie CPX (Braybrook et al, 2001). Further studies indicate that approximately 4-8% of cleft palate patients harbour TBX22 mutations, where ankyloglossia is an occasional but not obligatory additional feature.
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