Holt-Oram syndrome associated with anomalies of the feet.

Details

Serval ID
serval:BIB_F2EA6A92C170
Type
Article: article from journal or magazin.
Publication sub-type
Case report (case report): feedback on an observation with a short commentary.
Collection
Publications
Title
Holt-Oram syndrome associated with anomalies of the feet.
Journal
American Journal of Medical Genetics. Part A
Author(s)
Garavelli L., De Brasi D., Verri R., Guareschi E., Cariola F., Melis D., Calcagno G., Salvatore F., Unger S., Sebastio G., Albertini G., Rivieri F., Soli F., Superti-Furga A., Gentile M.
ISSN
1552-4833 (Electronic)
ISSN-L
1552-4825
Publication state
Published
Issued date
2008
Volume
146A
Number
9
Pages
1185-1189
Language
english
Notes
Publication types: Case Reports ; Journal : ppublish
Abstract
Holt-Oram syndrome (HOS) (OMIM 142900) is characterized by upper-extremity malformations involving the radial, thenar, or carpal bones and a personal and/or family history of congenital heart defects (CHDs). It is inherited in an autosomal dominant manner. The TBX5 gene located on chromosome 12 (12q24.1) is the only gene currently known to be associated with HOS and is associated with variable phenotypes. We report on the clinical and molecular characterization of a HOS family with three affected individuals and a novel mutation (Lys88ter). We discuss genotype-phenotype correlations, the presence of foot anomalies in one affected individual, and the role of atypical features in HOS differential diagnosis.
Keywords
Abnormalities, Multiple/genetics, Abnormalities, Multiple/pathology, Adolescent, Adult, Codon, Nonsense, DNA Mutational Analysis, Female, Foot Deformities, Congenital/genetics, Foot Deformities, Congenital/pathology, Heart Defects, Congenital/genetics, Humans, Male, Pedigree, Syndrome, T-Box Domain Proteins/genetics, Upper Extremity Deformities, Congenital/genetics, Upper Extremity Deformities, Congenital/pathology
Pubmed
Create date
14/03/2011 16:08
Last modification date
20/08/2019 16:20
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