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Identity by descent and candidate gene mapping of Richieri‐Costa and Pereira syndrome
Author(s) -
Ferreira de Lima R.L.L.,
MorettiFerreira D.,
RichieriCosta A.,
Murray J.C.
Publication year - 2003
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.20270
Subject(s) - descent (aeronautics) , identity by descent , identity (music) , candidate gene , genealogy , genetics , gene , biology , geography , philosophy , haplotype , history , aesthetics , genotype , meteorology
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.