Application of high‐resolution array platform for genome‐wide copy number variation analysis in patients with nonsyndromic cleft lip and palate

Silva, Heglayne Pereira Vital da; Oliveira, Gustavo Henrique de Medeiros; Ururahy, Marcela Abbott Galvão; Bezerra, João Felipe; Souza, Karla Simone Costa de; Bortolin, Raul Hernandes; Luchessi, André Ducati; Silbiger, Vivian Nogueira; Lima, Valéria Raquel Porto de; Leite, Gisele; Brito, Maria Edinilma Felinto de; Ribeiro, Erlane Marques; Gil-da-Silva-Lopes, Vera Lúcia; Rezende, Adriana Augusto de

doi:10.1002/jcla.22428

Cited by 12 publications

(8 citation statements)

References 37 publications

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“…N4BP2 , CDSN , PRTG , AHRR (Leslie, Carlson, Shaffer, Buxo, et al., 2017), ACSS2 and PHYH (Aylward et al., 2016) and microarray techniques for CNV analysis in search of potential causative genes i.e. COL11A1 , TERT , MIR4457 , CLPTM1 , ESR1 , GLI3 , FGFR , OFD , TBX1 , PHF8 and FLNA (da Silva et al., 2018) has also been found to be associated with NSCL ± P.…”

Section: Discussionmentioning

confidence: 99%

Assessment of candidate genes and genetic heterogeneity in human non syndromic orofacial clefts specifically non syndromic cleft lip with or without palate

Saleem

Zaib

Sun

et al. 2019

Heliyon

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Non syndromic orofacial clefts specifically non-syndromic cleft lip/palate are one of the most common craniofacial malformation among birth defects in human having multifactorial etiology with an incidence of 1:700/1000. On the basis of association with other congenital malformations or their presence as isolated anomaly, OFC can be classified as syndromic (30%) and nonsyndromic (70%) respectively. The major cause of disease demonstrates complex interplay between genetic and environmental factors. The pathogenic mechanism of underlying factors have been provided by different genetic studies on large-scale with significant recent advances in genotyping technologies usually based on linkage or genome wide association studies (GWAS). On the basis of recent studies, new tools to identify causative genes involved in NSCL/P reported approximately more than 30 genetic risk loci that are responsible for pathogenesis of facial deformation. Despite these findings, it is still uncertain that how much of variance in NSCL/P predisposing factors can be explain by identified risk loci, as they all together accounts for only 20%–25% of NSCL/P heritability. So there is need of further findings about the problem of rare low frequency coding variants and other missing responsive factors or genetic modifiers. This review will described those potential genes and loci reported in different studies whose involvement in pathogenesis of nonsyndromic OFC has wide scientific evidence.

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Section: Discussionmentioning

confidence: 99%

Assessment of candidate genes and genetic heterogeneity in human non syndromic orofacial clefts specifically non syndromic cleft lip with or without palate

Saleem

Zaib

Sun

et al. 2019

Heliyon

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“…In fact, only ten articles reporting a series of OC using CMA were identified up to November 2019. 4 , 13 , 14 , 15 , 16 , 17 , 18 , 19 , 20 , 21 …”

Section: Introductionmentioning

confidence: 99%

Identification of genomic imbalances in oral clefts

Lustosa-Mendes

Santos²,

Vieira³

et al. 2021

Jornal de Pediatria

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“…A large number of genes are involved in nonsyndromic forms of orofacial clefts, including above all growth factors ( CLPTM1 , FGFR1, TGFA, TGFB3 ), genes related to nutritional metabolism ( GAD1 , LRP6, MTHFR ) and transcription factors ( GRHL3, IRF6, MSX1, TBX1, TBX22, TP63 ) [ 10 , 14 , 15 ]. Unfortunately, we could not further investigate these genes because the parents refused any further genetic examination.…”

Section: Discussionmentioning

confidence: 99%

“…Unfortunately, we could not further investigate these genes because the parents refused any further genetic examination. However, clinically and genetically we could exclude the most frequent monogenetic or copy-number variations associated with palatal and retinal anomalies and HSCR [ 6 , 7 , 15 ]. Congenital intraoral synechiae associated with an oral cleft are exceedingly rare, described as clinical conditions as cleft palate lateral synechiae (CPLS) syndrome or cleft palate and congenital alveolar synechia (AS) syndrome [ 14 , 16 ].…”

Section: Discussionmentioning

confidence: 99%

Total colonic aganglionosis and cleft palate in a newborn with Janus-cysteine 618 mutation of RET proto-oncogene: a case report

Schierz¹,

Cimador²,

Giuffrè³

et al. 2020

Ital J Pediatr

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Background Hirschsprung disease, the most important congenital colonic dysmotility in children results from neural crest migration, differentiation, proliferation, or apoptosis defects where the rearranged during transfection (RET)-Protooncogene pathway has a central role. Although palatal and retinal anomalies in the context of chromosomopathies and some mono−/oligogenic syndromes are reported associated with Hirschsprung disease the role of inactivating RET mutations in these cases is not clarified. Case presentation We report on a dysmorphic newborn with cleft palate and palatal synechia, who showed intestinal obstruction after 24 h of life. Transient ileostomy and surgical biopsies were performed to diagnose aganglionosis of the colon and last ileal loop. No chromosomal anomalies or copy number variations were found. We identified a paternal heterozygous germline mutation c.1852 T > C, which results in the substitution of cysteine by arginine in the RET-receptor tyrosine kinase (p.C618R mutation). There was no family history of Hirschsprung disease, but the father underwent surgery for medullary thyroid carcinoma and was affected by retinal dystrophy. Conclusions The occurrence of Hirschsprung disease and carcinoma shows how a single mutation may be responsible for adverse effects: gain and loss of function of the same receptor. Furthermore, it would be interesting to study its dual role in face and retina embryology, and to extend targeted investigations of RET hotspots in these developmental abnormalities to facilitate counselling, follow-up, and tumor prevention. Complex surgical procedures and genetic testing as well as socio-economic impact are a challenge for familiar compliance.

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Application of high‐resolution array platform for genome‐wide copy number variation analysis in patients with nonsyndromic cleft lip and palate

Cited by 12 publications

References 37 publications

Assessment of candidate genes and genetic heterogeneity in human non syndromic orofacial clefts specifically non syndromic cleft lip with or without palate

Assessment of candidate genes and genetic heterogeneity in human non syndromic orofacial clefts specifically non syndromic cleft lip with or without palate

Identification of genomic imbalances in oral clefts

Total colonic aganglionosis and cleft palate in a newborn with Janus-cysteine 618 mutation of RET proto-oncogene: a case report

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