Genetic and molecular aspects of DiGeorge syndrome

Parker, Helen L.; Conway, Emily; Goldsberry, Jessica; Jeffries, Shandra; Price, Emily; Oxford, Julia

doi:10.1893/0005-3155-86.2.109

Cited by 5 publications

(4 citation statements)

References 47 publications

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“…The majority of individuals have a 3 Mb deletion whose proximal region contains the presumed disease associated with T-box transcription factor 1 ( TBX1) gene [ 11 – 16 ]. TBX1 gene plays a vital role during development and deletion of this gene leads to a variety of craniofacial and cardiac structures [ 17 ]. Rump et al, in 2014, [ 18 ] highlighted that loss of CRKL combined with loss of either TBX1 or MAPK1 in individuals with A–D or larger deletions results in higher rates of cardiac defects than in those individuals with central deletions that involve only CRKL gene.…”

Section: Resultsmentioning

confidence: 99%

The Identification of Microdeletion and Reciprocal Microduplication in 22q11.2 Using High-Resolution CMA Technology

Leite

Pinto

Cunha

et al. 2016

BioMed Research International

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The chromosome 22q11.2 region has long been implicated in genomic diseases. Some genomic regions exhibit numerous low copy repeats with high identity in which they provide increased genomic instability and mediate deletions and duplications in many disorders. DiGeorge Syndrome is the most common deletion syndrome and reciprocal duplications could be occurring in half of the frequency of microdeletions. We described five patients with phenotypic variability that carries deletions or reciprocal duplications at 22q11.2 detected by Chromosomal Microarray Analysis. The CytoScan HD technology was used to detect changes in the genome copy number variation of patients who had clinical indication to global developmental delay and a normal karyotype. We observed in our study three microdeletions and two microduplications in 22q11.2 region with variable intervals containing known genes and unstudied transcripts as well as the LCRs that are often flanking and within this genomic rearrangement. The identification of these variants is of particular interest because it may provide insight into genes or genomic regions that are crucial for specific phenotypic manifestations and are useful to assist in the quest for understanding the mechanisms subjacent to genomic deletions and duplications.

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Section: Resultsmentioning

confidence: 99%

The Identification of Microdeletion and Reciprocal Microduplication in 22q11.2 Using High-Resolution CMA Technology

Leite

Pinto

Cunha

et al. 2016

BioMed Research International

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“…As anomalias fenotípicas observadas na SD22q11. (Molesky, 2011;Gennery, 2012;Gao & Amendt, 2013;Costain et al, 2016;Cohen et al, 2018;Morrow et al, 2018;Mutlu et al, 2018 (Miller et al, 2010;Cohen et al, 2018;Morrow et al, 2018;Mutlu et al, 2018 (Swillen et al, 1998;Kates et al, 2004 (Silva et.al.,2010;McDonald-McGinn, 2018;Morrow et al, 2018 geralmente são separadas por menos do que 10 Mb de sequência única (Shaw & Lupski, 2004;Campbell et al, 2018;Kuo et al 2018;McDonald-McGinn, 2018;Unol et al, 2018;Sullivan, 2019 (Shaikh et al, 2001;Mikhail et al,2014;Campbell et al, 2018;Cohen et al, 2018;Kuo et al, 2018;McDonald-McGinn, 2018;Unol et al, 2018;Sullivan, 2019 (Driscoll et al, 1992;Merscher et al, 2001;Belangero et al, 2009;Campbell et al, 2018;Cohen et al, 2018;McDonald-McGinn, 2018;Sullivan, 2019 (Shaikh et al, 2001, Michaelovsky et al, 2012, Parker et al, 2015McDonald-McGinn, 2018;…”

Section: Etiologia E Fisiopatologia Da Sd22q112mentioning

confidence: 99%

“…O gene PIK4CA, quando deletado nos pacientes com SD22q11.2, pode ser associado ao quadro de esquizofrenia, uma vez que mutações nesse gene pode interromper a via de mielina e alterar a sua integridade, aumentando o risco de desenvolvimento da esquizofrenia (Parker, et al, 2015;Cohen et al, 2018;Morrow et al, 2018).…”

Section: Etiologia E Fisiopatologia Da Sd22q112unclassified

Detecção precoce da deleção 22q11.2 em recém-nascidos e lactentes portadores de cardiopatia congênita

Grassi¹

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Aos pacientes e suas famílias que doaram voluntariamente as amostras para que este estudo pudesse acontecer. À minha orientadora Profa. Dra. Magda Carneiro-Sampaio, pela oportunidade, pelo aprendizado, pela confiança e amizade durantes estes anos. À minha coorientadora Profa. Dra. Leslie Domenici Kulikowski, pela amizade, apoio, incentivo e seus ensinamentos. Ao Dr. Antônio Carlos Pastorino, pelo apoio constante, amizade, atenção, ensinamentos e por estar sempre ao meu lado. Acredito não conseguir demonstrar em palavras toda minha gratidão. À Profa. Dra. Cristina Abe Jacob, pela atenção, amizade, acolhimento, ensinamentos e os bons momentos compartilhados. À Profa. Dra. Vera Lúcia Jornada Krebs, pelo carinho, estímulo, amizade, ajuda e pelo apoio pessoal dado desde a minha chegada como residente no Instituto da Criança.

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“…Pacientes com síndrome velocardiofacial apresentavam cardiopatia congênita, anomalias de palato, dismorfismos faciais e dificuldades de aprendizagem. Apesar de serem condições diferentes, ambas as síndromes apresentam alterações genéticas semelhantes (ROSA et al, 2009;PARKER et al, 2015). MCGINN et al, 1997;MCDONALD-MCGINN et al, 2015).…”

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Aspectos clínicos e laboratoriais sugestivos de síndrome de DiGeorge em pacientes com cardiopatias congênitas conotruncais e CIV

Araújo

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Genetic and molecular aspects of DiGeorge syndrome

Cited by 5 publications

References 47 publications

The Identification of Microdeletion and Reciprocal Microduplication in 22q11.2 Using High-Resolution CMA Technology

The Identification of Microdeletion and Reciprocal Microduplication in 22q11.2 Using High-Resolution CMA Technology

Detecção precoce da deleção 22q11.2 em recém-nascidos e lactentes portadores de cardiopatia congênita

Aspectos clínicos e laboratoriais sugestivos de síndrome de DiGeorge em pacientes com cardiopatias congênitas conotruncais e CIV

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