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Genotype and cardiovascular phenotype correlations with TBX1 in 1,022 velo-cardio-facial/digeorge/22q11.2 deletion syndrome patients
Human mutation, 2011-11, Vol.32 (11), p.1278-1289
Guo, Tingwei
McDonald-McGinn, Donna
Blonska, Anna
Shanske, Alan
Bassett, Anne S.
Chow, Eva
Bowser, Mark
Sheridan, Molly
Beemer, Frits
Devriendt, Koen
Swillen, Ann
Breckpot, Jeroen
Digilio, Maria C.
Marino, Bruno
Dallapiccola, Bruno
Carpenter, Courtney
Zheng, Xin
Johnson, Jacob
Chung, Jonathan
Higgins, Anne Marie
Philip, Nicole
Simon, Tony J.
Coleman, Karlene
Heine-Suner, Damian
Rosell, Jordi
Kates, Wendy
Devoto, Marcella
Goldmuntz, Elizabeth
Zackai, Elaine
Wang, Tao
Shprintzen, Robert
Emanuel, Beverly
Morrow, Bernice
2011
Volltextzugriff (PDF)
Details
Autor(en) / Beteiligte
Guo, Tingwei
McDonald-McGinn, Donna
Blonska, Anna
Shanske, Alan
Bassett, Anne S.
Chow, Eva
Bowser, Mark
Sheridan, Molly
Beemer, Frits
Devriendt, Koen
Swillen, Ann
Breckpot, Jeroen
Digilio, Maria C.
Marino, Bruno
Dallapiccola, Bruno
Carpenter, Courtney
Zheng, Xin
Johnson, Jacob
Chung, Jonathan
Higgins, Anne Marie
Philip, Nicole
Simon, Tony J.
Coleman, Karlene
Heine-Suner, Damian
Rosell, Jordi
Kates, Wendy
Devoto, Marcella
Goldmuntz, Elizabeth
Zackai, Elaine
Wang, Tao
Shprintzen, Robert
Emanuel, Beverly
Morrow, Bernice
Titel
Genotype and cardiovascular phenotype correlations with TBX1 in 1,022 velo-cardio-facial/digeorge/22q11.2 deletion syndrome patients
Ist Teil von
Human mutation, 2011-11, Vol.32 (11), p.1278-1289
Ort / Verlag
Hoboken: Wiley Subscription Services, Inc., A Wiley Company
Erscheinungsjahr
2011
Quelle
MEDLINE
Beschreibungen/Notizen
Haploinsufficiency of TBX1, encoding a T‐box transcription factor, is largely responsible for the physical malformations in velo‐cardio‐facial /DiGeorge/22q11.2 deletion syndrome (22q11DS) patients. Cardiovascular malformations in these patients are highly variable, raising the question as to whether DNA variations in the TBX1 locus on the remaining allele of 22q11.2 could be responsible. To test this, a large sample size is needed. The TBX1 gene was sequenced in 360 consecutive 22q11DS patients. Rare and common variations were identified. We did not detect enrichment in rare SNP (single nucleotide polymorphism) number in those with or without a congenital heart defect. One exception was that there was increased number of very rare SNPs between those with normal heart anatomy compared to those with right‐sided aortic arch or persistent truncus arteriosus, suggesting potentially protective roles in the SNPs for these phenotype‐enrichment groups. Nine common SNPs (minor allele frequency, MAF > 0.05) were chosen and used to genotype the entire cohort of 1,022 22q11DS subjects. We did not find a correlation between common SNPs or haplotypes and cardiovascular phenotype. This work demonstrates that common DNA variations in TBX1 do not explain variable cardiovascular expression in 22q11DS patients, implicating existence of modifiers in other genes on 22q11.2 or elsewhere in the genome. Hum Mutat 32:1278–1289, 2011. ©2011 Wiley Periodicals, Inc.
Sprache
Englisch
Identifikatoren
ISSN: 1059-7794, 1098-1004
eISSN: 1098-1004
DOI: 10.1002/humu.21568
Titel-ID: cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3196824
Format
–
Schlagworte
22q11 Deletion Syndrome - genetics
,
22q11.2 deletion syndrome
,
Aortic arch
,
Cardiovascular Abnormalities - genetics
,
cardiovascular defects
,
chromosome 22
,
Chromosomes, Human, Pair 22 - genetics
,
DiGeorge Syndrome - genetics
,
Fetuses
,
Gene frequency
,
Genetic Variation
,
Genomes
,
genomic disorder
,
Genotype
,
haploinsufficiency
,
Haplotypes
,
Heart
,
Humans
,
Phenotype
,
Polymorphism, Single Nucleotide
,
Single-nucleotide polymorphism
,
T-Box Domain Proteins - genetics
,
Tbx1 protein
,
TBX1 sequencing
,
Transcription factors
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