Generating and modifying DiGeorge syndrome-like phenotypes in model organisms: Is there a common genetic pathway?

Francesca Vitelli; Antonio Baldini

doi:10.1016/j.tig.2003.09.002

Generating and modifying DiGeorge syndrome-like phenotypes in model organisms: Is there a common genetic pathway?

Francesca Vitelli, Antonio Baldini

www.neuromed.it

Research output: Contribution to journal › Article › peer-review

Abstract

Most DiGeorge syndrome (DGS) patients have a similar chromosomal 22q11.2 deletion (del22q11) but show great clinical variability, suggesting the presence of genetic modifiers. We review recent mouse studies describing DGS-like phenotypes associated with mutations in genes not included in del22q11. It is reasonable to predict that mutations at these loci in humans might cause DGS in patients without del22q11, or could modify the del22q11 phenotype. We discuss how these loci might interact with the leading DGS candidate gene, the transcription factor Tbx1.

Original language	English
Pages (from-to)	588-593
Number of pages	6
Journal	Trends in Genetics
Volume	19
Issue number	11
DOIs	https://doi.org/10.1016/j.tig.2003.09.002
Publication status	Published - Nov 2003

ASJC Scopus subject areas

Genetics

Access to Document

10.1016/j.tig.2003.09.002

Fingerprint Dive into the research topics of 'Generating and modifying DiGeorge syndrome-like phenotypes in model organisms: Is there a common genetic pathway?'. Together they form a unique fingerprint.

Cite this

@article{ce6e8c4e946243cc9e1fcbb40048b3fe,

title = "Generating and modifying DiGeorge syndrome-like phenotypes in model organisms: Is there a common genetic pathway?",

abstract = "Most DiGeorge syndrome (DGS) patients have a similar chromosomal 22q11.2 deletion (del22q11) but show great clinical variability, suggesting the presence of genetic modifiers. We review recent mouse studies describing DGS-like phenotypes associated with mutations in genes not included in del22q11. It is reasonable to predict that mutations at these loci in humans might cause DGS in patients without del22q11, or could modify the del22q11 phenotype. We discuss how these loci might interact with the leading DGS candidate gene, the transcription factor Tbx1.",

author = "Francesca Vitelli and Antonio Baldini",

year = "2003",

month = nov,

doi = "10.1016/j.tig.2003.09.002",

language = "English",

volume = "19",

pages = "588--593",

journal = "Trends in Genetics",

issn = "0168-9525",

publisher = "Elsevier Limited",

number = "11",

}

TY - JOUR

T1 - Generating and modifying DiGeorge syndrome-like phenotypes in model organisms

T2 - Is there a common genetic pathway?

AU - Vitelli, Francesca

AU - Baldini, Antonio

PY - 2003/11

Y1 - 2003/11

N2 - Most DiGeorge syndrome (DGS) patients have a similar chromosomal 22q11.2 deletion (del22q11) but show great clinical variability, suggesting the presence of genetic modifiers. We review recent mouse studies describing DGS-like phenotypes associated with mutations in genes not included in del22q11. It is reasonable to predict that mutations at these loci in humans might cause DGS in patients without del22q11, or could modify the del22q11 phenotype. We discuss how these loci might interact with the leading DGS candidate gene, the transcription factor Tbx1.

AB - Most DiGeorge syndrome (DGS) patients have a similar chromosomal 22q11.2 deletion (del22q11) but show great clinical variability, suggesting the presence of genetic modifiers. We review recent mouse studies describing DGS-like phenotypes associated with mutations in genes not included in del22q11. It is reasonable to predict that mutations at these loci in humans might cause DGS in patients without del22q11, or could modify the del22q11 phenotype. We discuss how these loci might interact with the leading DGS candidate gene, the transcription factor Tbx1.

UR - http://www.scopus.com/inward/record.url?scp=0242317358&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0242317358&partnerID=8YFLogxK

U2 - 10.1016/j.tig.2003.09.002

DO - 10.1016/j.tig.2003.09.002

M3 - Article

C2 - 14585606

AN - SCOPUS:0242317358

VL - 19

SP - 588

EP - 593

JO - Trends in Genetics

JF - Trends in Genetics

SN - 0168-9525

IS - 11

ER -