Identity by descent and candidate gene mapping of Richieri-Costa and Pereira syndrome

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 ide...

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Bibliographic Details
Published in:American journal of medical genetics 2003-09, Vol.122A (1), p.56-58
Main Authors: Ferreira de Lima, R.L.L., Moretti-Ferreira, D., Richieri-Costa, A., Murray, J.C.
Format: Article
Language:English
Subjects:
Biological and medical sciences
Body Height - genetics
Bone and Bones - abnormalities
Brazil
Chromosome Mapping
cleft mandible
General aspects. Genetic counseling
Genetic Markers
Humans
Mandible - abnormalities
Marshfield markers
Medical genetics
Medical sciences
Pierre Robin Syndrome - genetics
Richieri-Costa-Pereira syndrome
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Summary: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. © 2003 Wiley‐Liss, Inc.
ISSN:1552-4825
0148-7299
1552-4833
1096-8628
DOI:10.1002/ajmg.a.20270