Cleft palate with ankyloglossia
| Disorder | |
|---|---|
| OMIM #: | #303400 (Click to access OMIM database) |
| Disorder: | Cleft palate with ankyloglossia |
| Also known as: | |
| Clinical | |
| Phenotype: | cleft palate, ankyloglossia, palatopharyngeal incompetence, bifid uvula (female) |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | X-linked |
| Mutations | |
| 1 Unknown / Other Mennonite | |
| Gene: | TBX22 |
| Base Change: | G>T, at nucleotide 352 |
| Amino Acid Change: | gly 118 --> cys |
| Last updated: | 2022-11-03 |
| References |
|---|
| Braybrook C, Doudney K, Marçano AC, Arnason A, Bjornsson A, Patton MA, Goodfellow PJ, Moore GE, Stanier P. (2001) The T-box transcription factor gene TBX22 is mutated in X-linked cleft palate and ankyloglossia. Nat Genet 29(2):179-83. PubMed ID: 11559848 |
| Gorski SM, Adams KJ, Birch PH, Chodirker BN, Greenberg CR, Goodfellow PJ. (1994) Linkage analysis of X-linked cleft palate and ankyloglossia in Manitoba Mennonite and British Columbia native kindreds. Human Genet. 94:141-148. PubMed ID: 8045560 |
| Marçano AC, Doudney K, Braybrook C, Squires R, Patton MA, Lees MM, Richieri-Costa A, Lidral AC, Murray JC, Moore GE, Stanier P. (2004) TBX22 mutations are a frequent cause of cleft palate. J Med Genet Jan;41(1):68-74. PubMed ID: 14729838 |
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