Cleft palate in a patient with the nested 22q11.2 LCR C to D deletion

Williams, Crescenda L.; Nelson, Katherine R.; Grant, John H.; Mikhail, Fady M.; Robin, Nathaniel H.

doi:10.1002/ajmg.a.37408

Cited by 3 publications

(3 citation statements)

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“…The main phenotypes associated are immunodeficiency and heart defects, and atypical deletions have been associated with early developmental delays. 26,43,93 In reference to the location of the LCRs deleted, the proximal deletions (LCR-A-LCR-E) are associated with cardiac abnormalities, CL/P, immunodeficiency, and facial and psychiatric abnormalities. The central deletions (LCR-B-LCR-D) are mainly related to the presence of developmental delays, facial features, renal abnormalities, heart defects, and psychiatric problems.…”

Section: Discussionmentioning

confidence: 99%

The 22q11.2 Microdeletion in Pediatric Patients with Cleft Lip, Palate, or Both and Congenital Heart Disease: A Systematic Review

et al. 2019

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The 22q11.2 deletion syndrome (22q11.2DS) is present in approximately 5 to 8% of patients with cleft lip, palate, or both (CL/P) and 75 to 80% of patients with congenital heart disease (CHD). In a literature review, we consider this association of 22q11.2DS in pediatric patients with CL/P and CHD. Early diagnosis of 22q11.2DS in pediatric patients with CL/P and CHD helps to optimize a multidisciplinary treatment approach for 22q11DS. Early diagnosis, thereby, can improve quality of life for these patients and awareness of other potential clinical implications that may require attention throughout the patient's life.

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Section: Discussionmentioning

confidence: 99%

The 22q11.2 Microdeletion in Pediatric Patients with Cleft Lip, Palate, or Both and Congenital Heart Disease: A Systematic Review

et al. 2019

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“…The most common deletions are phenotypically indistinguishable from each other and consist of either a 3 Mb segment spanning the low copy repeats (LCR) A-D (around 85% of cases); or a smaller 1.5 Mb deletion that spans LCR A-B seen in around 15% of cases [ 14 – 16 ]. A less common LCR C-D deletion of the typical 22q11.2DS region has also been identified, which is associated with a much-reduced prevalence of cardiac malformations and oro-facial clefting [ 17 – 19 ]. 22q11.2DS is a contiguous gene and haploinsufficient syndrome with at least 30 different genes potentially contributing to the characteristic clinical features [ 20 , 21 ].…”

Section: Introductionmentioning

confidence: 99%

Gene expression profiling in the developing secondary palate in the absence of Tbx1 function

et al. 2018

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BackgroundMicrodeletion of chromosome 22q11 is associated with significant developmental anomalies, including disruption of the cardiac outflow tract, thymic/parathyroid aplasia and cleft palate. Amongst the genes within this region, TBX1 is a major candidate for many of these developmental defects. Targeted deletion of Tbx1 in the mouse has provided significant insight into the function of this transcription factor during early development of the cardiac and pharyngeal systems. However, less is known about its role during palatogenesis. To assess the influence of Tbx1 function on gene expression profile within the developing palate we performed a microarray screen using total RNA isolated from the secondary palate of E13.5 mouse embryos wild type, heterozygous and mutant for Tbx1.ResultsExpression-level filtering and statistical analysis revealed a total of 577 genes differentially expressed across genotypes. Data were clustered into 3 groups based on comparison between genotypes. Group A was composed of differentially expressed genes in mutant compared to wild type (n = 89); Group B included differentially expressed genes in heterozygous compared to wild type (n = 400) and Group C included differentially expressed genes in mutant compared to heterozygous (n = 88). High-throughput quantitative real-time PCR (RT-PCR) confirmed a total of 27 genes significantly changed between wild type and mutant; and 27 genes between heterozygote and mutant. Amongst these, the majority were present in both groups A and C (26 genes). Associations existed with hypertrophic cardiomyopathy, cardiac muscle contraction, dilated cardiomyopathy, focal adhesion, tight junction and calcium signalling pathways. No significant differences in gene expression were found between wild type and heterozygous palatal shelves.ConclusionsSignificant differences in gene expression profile within the secondary palate of wild type and mutant embryos is consistent with a primary role for Tbx1 during palatogenesis.Electronic supplementary materialThe online version of this article (10.1186/s12864-018-4782-y) contains supplementary material, which is available to authorized users.

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“…De acordo com o autor, a presença de fissura de lábio e palato em um indivíduo com deleção do 22q11 demonstra a importância de incluir esse tipo de fissura no critério de diagnóstico. Outro caso de deleção 22q11.2 com fissura de lábio e palato foi relatado por Williams et al (2016). Devido ao fenótipo atípico relacionado à deleção do 22q11.2 nos indivíduos 41 e 46 sugere-se que indivíduos com fissura de lábio e palato com dificuldade de aprendizagem, com ou sem atraso no desenvolvimento e/ou distúrbio de comportamento, sejam testados para deleção do 22q11.2 por meio da técnica de MLPA P064 e/ou P250 para triagem da deleção e, quando possível, pela técnica de aCGH para definição do ponto ou pontos de quebra, para melhor manejo do indivíduo e orientação adequada para família.…”

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Microrrearranjos cromossômicos em síndromes craniofaciais complexas

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A Deus por cuidar de cada detalhe da minha vida, não me deixar desanimar e me carregar no colo nos momentos mais difíceis. Aos meus filhos, Maria Clara e João Gabriel, a melhor parte de mim, por seus sorrisos, beijos e abraços, por compreenderem a importância do meu trabalho e minha ausência em muitos momentos que precisaram de mim. Meu amor infinito. Aos meus pais, Adelone e Irma, pelo amor incondicional e por terem me ensinado valores como a humildade, responsabilidade, ética, respeito, gratidão, persistência e por cuidarem com todo amor dos meus filhos na minha ausência. Aos meus irmãos Ellen, Lilian, Marlon e Marcos, pela presença nos momentos difíceis, pelo apoio e pelas palavras de incentivo.

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Cleft palate in a patient with the nested 22q11.2 LCR C to D deletion

Cited by 3 publications

References 15 publications

The 22q11.2 Microdeletion in Pediatric Patients with Cleft Lip, Palate, or Both and Congenital Heart Disease: A Systematic Review

The 22q11.2 Microdeletion in Pediatric Patients with Cleft Lip, Palate, or Both and Congenital Heart Disease: A Systematic Review

Gene expression profiling in the developing secondary palate in the absence of Tbx1 function

Microrrearranjos cromossômicos em síndromes craniofaciais complexas

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