Preaxial polydactyly associated with a MSX1 mutation and report of two novel mutations
© 2016 Wiley Periodicals, Inc. We report two novel heterozygous missense MSX1 mutations in two Thai families (c.739C > T; p.Pro247Ser and c.607G > A; p.Ala203Thr). The p.Ala203Thr mutation was found in a female patient, her sister, and their father and is associated with unilateral cleft lip a...
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th-cmuir.6653943832-424102017-09-28T04:26:59Z Preaxial polydactyly associated with a MSX1 mutation and report of two novel mutations Wattanarat O. Kantaputra P. © 2016 Wiley Periodicals, Inc. We report two novel heterozygous missense MSX1 mutations in two Thai families (c.739C > T; p.Pro247Ser and c.607G > A; p.Ala203Thr). The p.Ala203Thr mutation was found in a female patient, her sister, and their father and is associated with unilateral cleft lip and palate, hypodontia, and microdontia. The p.Pro247Ser mutation was found in a three-generation Thai family and was associated with bilateral cleft lip and palate, hypodontia, microdontia, and dens invaginatus. The proband also had preaxial polydactyly of the left hand. The role of Msx1 in limb development in mice is discussed. Intrafamilial variability of the phenotypes is clearly evident. This is the first time that a limb anomaly has been reported to be associated with a mutation in MSX1. 2017-09-28T04:26:59Z 2017-09-28T04:26:59Z 2016-01-01 Journal 15524825 2-s2.0-84955652499 10.1002/ajmg.a.37417 https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=84955652499&origin=inward http://cmuir.cmu.ac.th/jspui/handle/6653943832/42410 |
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© 2016 Wiley Periodicals, Inc. We report two novel heterozygous missense MSX1 mutations in two Thai families (c.739C > T; p.Pro247Ser and c.607G > A; p.Ala203Thr). The p.Ala203Thr mutation was found in a female patient, her sister, and their father and is associated with unilateral cleft lip and palate, hypodontia, and microdontia. The p.Pro247Ser mutation was found in a three-generation Thai family and was associated with bilateral cleft lip and palate, hypodontia, microdontia, and dens invaginatus. The proband also had preaxial polydactyly of the left hand. The role of Msx1 in limb development in mice is discussed. Intrafamilial variability of the phenotypes is clearly evident. This is the first time that a limb anomaly has been reported to be associated with a mutation in MSX1. |
| format |
Journal |
| author |
Wattanarat O. Kantaputra P. |
| spellingShingle |
Wattanarat O. Kantaputra P. Preaxial polydactyly associated with a MSX1 mutation and report of two novel mutations |
| author_facet |
Wattanarat O. Kantaputra P. |
| author_sort |
Wattanarat O. |
| title |
Preaxial polydactyly associated with a MSX1 mutation and report of two novel mutations |
| title_short |
Preaxial polydactyly associated with a MSX1 mutation and report of two novel mutations |
| title_full |
Preaxial polydactyly associated with a MSX1 mutation and report of two novel mutations |
| title_fullStr |
Preaxial polydactyly associated with a MSX1 mutation and report of two novel mutations |
| title_full_unstemmed |
Preaxial polydactyly associated with a MSX1 mutation and report of two novel mutations |
| title_sort |
preaxial polydactyly associated with a msx1 mutation and report of two novel mutations |
| publishDate |
2017 |
| url |
https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=84955652499&origin=inward http://cmuir.cmu.ac.th/jspui/handle/6653943832/42410 |
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