Journal article
Genetic approaches to identify disease genes for birth defects with Cleft lip/palate as a model
Birth defects research. A Clinical and molecular teratology, Vol.70(12), pp.893-901
2004
DOI: 10.1002/bdra.20096
PMID: 15578714
Abstract
Background: Understanding the etiology of birth defects is an important step toward developing improved treatment and preventive strategies. Most birth defects have an underlying genetic basis, ranging from single genes playing dominant or recessive roles in Mendelian disorders to a mixture of contributions from multiple genes and environmental triggers in complex traits. The purpose of this article is to provide an overview of genetic approaches to identifying disease genes for genetically complex birth defects.
Methods: A review of the literature describing successes and limitations for identifying disease genes for complex traits was conducted.
Results: Cleft lip and cleft palate are common congenital anomalies with significant medical, psychological, social, and economic ramifications. The Online Mendelian Inheritance in Man catalog (OMIM; http://www3.ncbi.nlm.nih.gov/Omim) lists more than 400 single-gene causes of clefts of the lip and/or palate. Genetic causes of clefting also include chromosomal rearrangements, genetic susceptibility to teratogenic exposures, and complex genetic contributions of multiple genes.
Conclusions: Genetic causes of birth defects can be identified using an increasingly powerful combination of careful sample collection, molecular analytic methods, and statistical evaluations. We will describe a range of approaches to search for genetic factors of birth defects and use our own work with cleft lip and palate as a model.
Details
- Title: Subtitle
- Genetic approaches to identify disease genes for birth defects with Cleft lip/palate as a model
- Creators
- Andrew C LIDRAL - Department of Orthodontics and Dows Institute for Dental Research, College of Dentistry, University of Iowa, Iowa City, Iowa, United StatesJeffrey C MURRAY - Department of Pediatrics, University of Iowa, Iowa City, Iowa, United States
- Resource Type
- Journal article
- Publication Details
- Birth defects research. A Clinical and molecular teratology, Vol.70(12), pp.893-901
- DOI
- 10.1002/bdra.20096
- PMID
- 15578714
- NLM abbreviation
- Birth Defects Res A Clin Mol Teratol
- ISSN
- 1542-0752
- eISSN
- 1542-0760
- Publisher
- Wiley; Hoboken, NJ
- Language
- English
- Date published
- 2004
- Academic Unit
- Anatomy and Cell Biology; Stead Family Department of Pediatrics; Epidemiology; Pediatric Dentistry; Craniofacial Anomalies Research Center; Dental Research
- Record Identifier
- 9984025359902771
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