Genetic Inheritance Models of Non-Syndromic Cleft Lip with or without Palate: From Monogenic to Polygenic

Cheng, Xi; Du, Fengzhou; Long, Xiao; Huang, Jiuzuo

doi:10.3390/genes14101859

Cited by 4 publications

(3 citation statements)

References 78 publications

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“…NSCLP is associated with various factors, and the pathogenesis of NSCLP is not completely clear. It is believed that susceptibility genes are closely related to NSCLP caused by abnormal palatal morphogenesis and tissue fusion during embryonic development [24,[27][28][29]. A variety of approaches have been used to identify key genes contributing to NSCLP through linkage analysis, genomic rearrangements, candidate genes, and genome-wide association studies (GWAS) [23].…”

Section: Discussionmentioning

confidence: 99%

“…However, these observations suggested that different populations have different causal variants due to different genetic backgrounds., Leslie and Marazita reviewed orofacial clefts with the many error genes that contributed to the etiology of birth defects [23]. Few studies have explored genomic loci mutation related to NSCLP among Chinese people [24].…”

Section: Introductionmentioning

confidence: 99%

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Identification of RESP18 Gene Mutations Linked to Hereditary Non-Syndromic Cleft Lip and Palate in a Southern Chinese Family

Zhong,

Han,

Xie

et al. 2024

Med Sci Monit

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Background Non-syndromic cleft lip with cleft palate (NSCLP) is one of the most common congenital birth defects worldwide; it causes lifelong problems and imposes burdens on patients and their families. This study aimed to describe the genomic analysis and identification of de novo regulated endocrine-specific protein 18 (RESP18) rs2385404 and rs2385405 gene polymorphisms associated with NSCLP in a southern Chinese family and to improve prevention, treatment, and prognosis of NSCLP. Material/Methods We performed a genome-wide association study (GWAS) to investigate the association of NSCLP phenotype with gene mutation. We investigated a 5-persons NSCLP family to screen the genetic variation of Han nationality in southern Chinese. Whole-genome sequencing (WGS) was used to detect all candidate genetic variants, and whole-exome sequencing (WES) was implemented to further verify mutations. The Clinical Variation Data Base (ClinVar) was employed for screening gene mutations. Finally, Sanger sequencing was applied to verify gene variations. Results The combined analysis of WGS, WES, and ClinVar showed that a total of 9 variation positions overlapped among the 3 study cohorts. Sanger sequencing verified Glu amino acid variation in 2 mutation sites (rs2385404, rs2385405) from the RESP18 gene, which caused abnormal RESP18 function and was associated with hereditary NSCLP. Conclusions The combined genomic results showed that 2 mutations (rs2385404 and rs2385405) of the RESP18 gene were related to NSCLP in the family. The RESP18 gene may play an important role in the etiology and pathogenesis of cleft lip and palate.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Identification of RESP18 Gene Mutations Linked to Hereditary Non-Syndromic Cleft Lip and Palate in a Southern Chinese Family

Zhong,

Han,

Xie

et al. 2024

Med Sci Monit

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“…OFC is a complex congenital anomaly exhibiting an interaction between genetic and environmental factors [57]. Although cleft lip and cleft palate often occur together, NSCL/P and NSCPO are two distinct groups of NSOFC based on embryological and epidemiological distinction [58].…”

Section: Discussionmentioning

confidence: 99%

Association between IRF6, TP63, GREM1 Gene Polymorphisms and Non-Syndromic Orofacial Cleft Phenotypes in Vietnamese Population: A Case–Control and Family-Based Study

Pham,

Niimi,

Suzuki

et al. 2023

Genes

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This study aims to identify potential variants in the TP63–IRF6 pathway and GREM1 for the etiology of non-syndromic orofacial cleft (NSOFC) among the Vietnamese population. By collecting 527 case–parent trios and 527 control samples, we conducted a stratified analysis based on different NSOFC phenotypes, using allelic, dominant, recessive and over-dominant models for case–control analyses, and family-based association tests for case–parent trios. Haplotype and linkage disequilibrium analyses were also conducted. IRF6 rs2235375 showed a significant association with an increased risk for non-syndromic cleft lip and palate (NSCLP) and cleft lip with or without cleft palate (NSCL/P) in the G allele, with pallele values of 0.0018 and 0.0003, respectively. Due to the recessive model (p = 0.0011) for the NSCL/P group, the reduced frequency of the GG genotype of rs2235375 was associated with a protective effect against NSCL/P. Additionally, offspring who inherited the G allele at rs2235375 had a 1.34-fold increased risk of NSCL/P compared to the C allele holders. IRF6 rs846810 and a G-G haplotype at rs2235375–rs846810 of IRF6 impacted NSCL/P, with p-values of 0.0015 and 0.0003, respectively. In conclusion, our study provided additional evidence for the association of IRF6 rs2235375 with NSCLP and NSCL/P. We also identified IRF6 rs846810 as a novel marker associated with NSCL/P, and haplotypes G-G and C-A at rs2235375–rs846810 of IRF6 associated with NSOFC.

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Sasa veitchii extract alleviates phenobarbital‐induced cell proliferation inhibition by upregulating transforming growth factor‐beta 1

Yoshioka,

Tsukiboshi,

Horita

et al. 2024

Traditional & Kampo Medicine

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AimCleft lip is a common congenital disease, accompanied by a complicated etiology. Medical exposure in women is one of the reasons leading to cleft lip. Phenobarbital is a major drug used for the treatment of epilepsy and has been reported to induce cleft lip, with or without cleft palate. This study aimed to explore the protective effects of Sasa veitchii extract (SE) against phenobarbital‐induced inhibition of human lip fibroblast (JCRB9103) cell proliferation.MethodsWe evaluated the cell viability of JCRB9103 cells after 48 h of phenobarbital treatment. We examined the rescue experiment using SE, sodium copper chlorophyllin, or recombinant transforming growth factor‐beta 1. Western blotting was performed to identify key proteins involved in lip formation in JCRB9103 cells.ResultsPhenobarbital treatment decreased the cell viability of JCRB9103 cells in a dose‐dependent manner. Cotreatment with SE or sodium copper chlorophyllin alleviated phenobarbital‐induced inhibition of cell viability in JCRB9103 cells. SE treatment upregulated the transforming growth factor‐beta 1 level, and transforming growth factor‐beta 1 protected against phenobarbital‐induced inhibition of cell proliferation.ConclusionsThese results suggest that phenobarbital‐induced inhibition of cell proliferation was restored by sodium copper chlorophyllin present in SE via the regulation of transforming growth factor‐beta 1.

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Genetic Inheritance Models of Non-Syndromic Cleft Lip with or without Palate: From Monogenic to Polygenic

Cited by 4 publications

References 78 publications

Identification of RESP18 Gene Mutations Linked to Hereditary Non-Syndromic Cleft Lip and Palate in a Southern Chinese Family

Identification of RESP18 Gene Mutations Linked to Hereditary Non-Syndromic Cleft Lip and Palate in a Southern Chinese Family

Association between IRF6, TP63, GREM1 Gene Polymorphisms and Non-Syndromic Orofacial Cleft Phenotypes in Vietnamese Population: A Case–Control and Family-Based Study

Sasa veitchii extract alleviates phenobarbital‐induced cell proliferation inhibition by upregulating transforming growth factor‐beta 1

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