Journal article
Identity by descent and candidate gene mapping of Richieri-Costa and Pereira syndrome
American journal of medical genetics, Vol.122A(1), pp.56-58
2003
DOI: 10.1002/ajmg.a.20270
PMID: 12949973
Abstract
The Richieri-Costa-Pereira syndrome is a rare autosomal recessive disorder characterized by short stature, Robin sequence, cleft mandible, pre/postaxial anomalies and clubfoot. Of 15 families reported with this disorder 14 are from Brazil suggesting a founder effect. We studied 15 families using identity-by-descent as a hypothesis to attempt gene localization We have examined through linkage analysis 497 polymorphic-markers and also performed direct sequencing of exons for 10 candidate genes selected on the basis of their expression in the developing mandible and limb. No evidence for allele sharing at any locus tested or mutations in candidate genes was found. Additional higher resolution mapping, new families and other candidate genes might improve future chances of gene identification.
Details
- Title: Subtitle
- Identity by descent and candidate gene mapping of Richieri-Costa and Pereira syndrome
- Creators
- R. L. L FERREIRA DE LIMA - Departamento de Genética, Universidade Estadual de Sao Paulo, Botucatu, SP, BrazilD MORETTI-FERREIRA - Departamento de Genética, Universidade Estadual de Sao Paulo, Botucatu, SP, BrazilA RICHIERI-COSTA - Serviço de Genética Clinica. Hospital de Anomalias Craniofaciais, Universidade de Sdo Paulo, Bauru, SP, BrazilJ. C MURRAY - Department of Pediatrics, University of Iowa, Iowa City, Iowa, United States
- Resource Type
- Journal article
- Publication Details
- American journal of medical genetics, Vol.122A(1), pp.56-58
- DOI
- 10.1002/ajmg.a.20270
- PMID
- 12949973
- NLM abbreviation
- Am J Med Genet
- ISSN
- 0148-7299
- eISSN
- 1096-8628
- Publisher
- Wiley-Liss; New York, NY
- Language
- English
- Date published
- 2003
- Academic Unit
- Anatomy and Cell Biology; Stead Family Department of Pediatrics; Epidemiology; Pediatric Dentistry; Craniofacial Anomalies Research Center; Dental Research
- Record Identifier
- 9984025336302771
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