06-P008 Loss of Tbx22 causes submucous cleft palate, ankyloglossia and choanal atresia
نویسندگان
چکیده
منابع مشابه
06-P008 Loss of Tbx22 causes submucous cleft palate, ankyloglossia and choanal atresia
combinations, and identified those genes specifically involved in the disease and minimizing variations between samples and different cell cultures. The comparison between control and NSCL/P patients yielded 56 genes. Subsequent signaling pathway analyses involving the identified genes, suggested involvement of three different pathways. In particular, we concentrated on the up-regulation of 3 c...
متن کاملTbx22null mice have a submucous cleft palate due to reduced palatal bone formation and also display ankyloglossia and choanal atresia phenotypes
Craniofacial defects involving the lip and/or palate are among the most common human birth defects. X-linked cleft palate and ankyloglossia results from loss-of-function mutations in the gene encoding the T-box transcription factor TBX22. Further studies show that TBX22 mutations are also found in around 5% of non-syndromic cleft palate patients. Although palate defects are obvious at birth, th...
متن کاملSyndromic association of cleft palate, bilateral choanal atresia, curly hair, and congenital hypothyroidism.
We describe a patient with the unusual association of cleft palate, bilateral choanal atresia, curly hair, and congenital hypothyroidism. This association has been reported before in two brothers and may represent a new syndrome.
متن کاملCloning and expression analysis of the chick ortholog of TBX22, the gene mutated in X-linked cleft palate and ankyloglossia
T-box genes constitute a conserved gene family with important roles in many developmental processes. Several family members have been implicated in human congenital diseases. Recently, mutations in TBX22 were found to cause X-linked cleft palate (CPX and ankyloglossia), a semidominant X-linked disorder affecting formation of the secondary palate. Here, we have cloned the chick ortholog of human...
متن کاملCraniofacial expression of human and murine TBX22 correlates with the cleft palate and ankyloglossia phenotype observed in CPX patients.
Cleft palate with ankyloglossia (CPX; MIM 303400) is inherited as a Mendelian, semidominant X-linked disorder and has been described in several large families from different ethnic origins. It is a useful genetic model for non-syndromic cleft palate, a common congenital disorder. Recently, the underlying genetic defect in CPX was identified, where unique mutations were found in the T-box-contai...
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ژورنال
عنوان ژورنال: Mechanisms of Development
سال: 2009
ISSN: 0925-4773
DOI: 10.1016/j.mod.2009.06.234