In a Vietnamese population, MSX1 variants contribute to cleft lip and palate

Yasushi Suzuki; Peter A Jezewski; Junichiro Machida; Yoriko Watanabe; Min Shi; Margaret E Cooper; Le Thi Viet; Thi Duc Tin Nguyen; Huynh Hai; Nagato Natsume; Kazuo Shimozato; Mary L Marazita; Jeffrey C Murray

doi:10.1097/01.GIM.0000127275.52925.05

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In a Vietnamese population, MSX1 variants contribute to cleft lip and palate

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In a Vietnamese population, MSX1 variants contribute to cleft lip and palate

Yasushi Suzuki, Peter A Jezewski, Junichiro Machida, Yoriko Watanabe, Min Shi, Margaret E Cooper, Le Thi Viet, Thi Duc Tin Nguyen, Huynh Hai, Nagato Natsume, …

Genetics in medicine, Vol.6(3), pp.117-125

05/2004

DOI: 10.1097/01.GIM.0000127275.52925.05

PMID: 15354328

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Abstract

To identify causes of nonsyndromic cleft lip and palate in a Vietnamese population. In this study, 175 families with at least one case of cleft lip and/or palate were studied using the candidate genes TGFA, MSX1, and TGFB3. Transmission distortion for alleles of MSX1 were demonstrated for the whole population and two missense mutations were identified, including one (P147Q) that is found in approximately 2% of the population. The P147Q appears to arise from a founder individual based on shared haplotypes in unrelated families. MSX1 contributes to nonsyndromic clefting in a Vietnamese population, and consistent with other studies, identifiable mutations in this gene cause about 2% of cases of nonsyndromic clefting.

Vietnam

Family

Genetics, Population

Genetic Testing

Introns - genetics

Humans

Exons - genetics

Male

Cleft Palate - genetics

MSX1 Transcription Factor

Homeodomain Proteins - genetics

Mutation, Missense - genetics

Transforming Growth Factor alpha - genetics

Haplotypes - genetics

Cleft Lip - genetics

Transforming Growth Factor beta - genetics

Pedigree

Alleles

Female

Transforming Growth Factor beta3

Details

Title: Subtitle: In a Vietnamese population, MSX1 variants contribute to cleft lip and palate
Creators: Yasushi Suzuki - Second Department of Oral and Maxillofacial Surgery, School of Dentistry Aichi-Gakuin University, Nagoya, Japan
Peter A Jezewski
Junichiro Machida
Yoriko Watanabe
Min Shi
Margaret E Cooper
Le Thi Viet
Thi Duc Tin Nguyen
Huynh Hai
Nagato Natsume
Kazuo Shimozato
Mary L Marazita
Jeffrey C Murray
Resource Type: Journal article
Publication Details: Genetics in medicine, Vol.6(3), pp.117-125
DOI: 10.1097/01.GIM.0000127275.52925.05
PMID: 15354328
NLM abbreviation: Genet Med
ISSN: 1098-3600
eISSN: 1530-0366
Publisher: United States
Grant note: DE10876 / NIDCR NIH HHS DE08559 / NIDCR NIH HHS DE13076 / NIDCR NIH HHS R01 DE016148 / NIDCR NIH HHS
Language: English
Date published: 05/2004
Academic Unit: Anatomy and Cell Biology; Stead Family Department of Pediatrics; Epidemiology; Pediatric Dentistry; Craniofacial Anomalies Research Center; Dental Research
Record Identifier: 9984025318602771

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