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 and p...

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Main Authors:	Onnida Wattanarat, Piranit Nik Kantaputra
Format:	Journal
Published:	2018
Subjects:	Biochemistry, Genetics and Molecular Biology Medicine
Online Access:	https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=84955652499&origin=inward http://cmuir.cmu.ac.th/jspui/handle/6653943832/55272
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Institution:	Chiang Mai University

id	th-cmuir.6653943832-55272
record_format	dspace
spelling	th-cmuir.6653943832-552722018-09-05T03:10:55Z Preaxial polydactyly associated with a MSX1 mutation and report of two novel mutations Onnida Wattanarat Piranit Nik Kantaputra Biochemistry, Genetics and Molecular Biology Medicine © 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. 2018-09-05T02:53:50Z 2018-09-05T02:53:50Z 2016-01-01 Journal 15524833 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/6653943832/55272
institution	Chiang Mai University
building	Chiang Mai University Library
country	Thailand
collection	CMU Intellectual Repository
topic	Biochemistry, Genetics and Molecular Biology Medicine
spellingShingle	Biochemistry, Genetics and Molecular Biology Medicine Onnida Wattanarat Piranit Nik Kantaputra Preaxial polydactyly associated with a MSX1 mutation and report of two novel mutations
description	© 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	Onnida Wattanarat Piranit Nik Kantaputra
author_facet	Onnida Wattanarat Piranit Nik Kantaputra
author_sort	Onnida Wattanarat
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	2018
url	https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=84955652499&origin=inward http://cmuir.cmu.ac.th/jspui/handle/6653943832/55272
_version_	1681424475018493952

Preaxial polydactyly associated with a MSX1 mutation and report of two novel mutations

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