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Narrowing the Critical Region for Congenital Vertical Talus in Patients With Interstitial 18q Deletions

Identifieur interne : 000321 ( Istex/Checkpoint ); précédent : 000320; suivant : 000322

Narrowing the Critical Region for Congenital Vertical Talus in Patients With Interstitial 18q Deletions

Auteurs : Paul R. Mark [États-Unis] ; Brian C. Radlinski [États-Unis] ; Nathalie Core [France] ; Alan Fryer [Royaume-Uni] ; Edwin P. Kirk [Australie] ; Chad R. Haldeman-Englert [États-Unis]

Source :

American Journal of Medical Genetics Part A [ 1552-4825 ] ; 2013-05.

RBID : ISTEX:4AC53692EF967F8FB948810595D548B53028C679

Descripteurs français

Wicri :
- topic : Génétique.

English descriptors

KwdEn :
- American journal, Axial skeleton, Birth weight, Centile, Chromosome, Cody, Congenital, Critical region, Critical regions, Deletion, Deletion syndrome, Feenstra, Foot deformities, Genet, Genet part, Genetics, Genomic hybridization, Grand rapids, Head circumference, Hemizygous state, Heterozygous deletion, Interocular distance, Medical genetics, Medical genetics part, Microarray analysis, Other gene, Phenotype, Serous otitis media, Several studies, Soft palate, Syndrome, Talus, Teashirt, Teashirt gene, Tshz1, Tshz1 expression, Vertical talus, Vissers lelm, Weeks gestation, Wellcome trust, Wiley periodicals.
Teeft :
- American journal, Axial skeleton, Birth weight, Centile, Chromosome, Cody, Congenital, Critical region, Critical regions, Deletion, Deletion syndrome, Feenstra, Foot deformities, Genet, Genet part, Genetics, Genomic hybridization, Grand rapids, Head circumference, Hemizygous state, Heterozygous deletion, Interocular distance, Medical genetics, Medical genetics part, Microarray analysis, Other gene, Phenotype, Serous otitis media, Several studies, Soft palate, Syndrome, Talus, Teashirt, Teashirt gene, Tshz1, Tshz1 expression, Vertical talus, Vissers lelm, Weeks gestation, Wellcome trust, Wiley periodicals.

Abstract

Interstitial deletions of 18q lead to a number of phenotypic features, including multiple types of foot deformities. Many of these associated phenotypes have had their critical regions narrowly defined. Here we report on three patients with small overlapping deletions of chromosome 18q determined by microarray analysis (chr18:72493281–73512553 hg19 coordinates). All of the patients have congenital vertical talus (CVT). Based on these findings and previous reports in the literature and databases, we narrow the critical region for CVT to a minimum of five genes (ZNF407, ZADH2, TSHZ1, C18orf62, and ZNF516), and propose that TSHZ1 is the likely causative gene for CVT in 18q deletion syndrome. © 2013 Wiley Periodicals, Inc.

Url:

https://api.istex.fr/document/4AC53692EF967F8FB948810595D548B53028C679/fulltext/pdf

DOI: 10.1002/ajmg.a.35791

Affiliations:

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Le document en format XML

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<front><div type="abstract" xml:lang="en">Interstitial deletions of 18q lead to a number of phenotypic features, including multiple types of foot deformities. Many of these associated phenotypes have had their critical regions narrowly defined. Here we report on three patients with small overlapping deletions of chromosome 18q determined by microarray analysis (chr18:72493281–73512553 hg19 coordinates). All of the patients have congenital vertical talus (CVT). Based on these findings and previous reports in the literature and databases, we narrow the critical region for CVT to a minimum of five genes (ZNF407, ZADH2, TSHZ1, C18orf62, and ZNF516), and propose that TSHZ1 is the likely causative gene for CVT in 18q deletion syndrome. © 2013 Wiley Periodicals, Inc.</div>
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Narrowing the Critical Region for Congenital Vertical Talus in Patients With Interstitial 18q Deletions

Narrowing the Critical Region for Congenital Vertical Talus in Patients With Interstitial 18q Deletions

Source :

Descripteurs français

English descriptors

Abstract

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Le document en format XML

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