A novel FZD6 mutation revealed the cause of cleft lip and/or palate in a Chinese family

Zhang, Jieni; Zhao, Huaxiang; Huang, Wenbin; Song, Fengqi; Zhong, Wenjie; Zhang, Mengqi; Zhang, Yunfan; Zhou, Zhibo; Jun, Lin; Chen, Feng

doi:10.1016/j.gendis.2019.12.003

Cited by 3 publications

(4 citation statements)

References 36 publications

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“…Previous studies have shown that the etiology of NSCLP is heterogeneous and closely related to genetic and environmental factors [1,3,4,7]. However, a singlegene mutation may contribute more significance in a hereditary NSCLP family [8]. There have been few studies on shared related mutant genes in NSCLP families.…”

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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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: 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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“…This condition can be divided into syndromic cleft lip with or without cleft palate (SCL/P) and nonsyndromic cleft lip with or without cleft palate (NSCL/P), according to whether it is accompanied by malformations in other organs and systems. NSCL/P patients account for 70% of the total number of patients with CL/P [ 6 ] and are currently an area of interest.…”

Section: Introductionmentioning

confidence: 99%

Identification of a Novel Variant of PDGFC Associated with Nonsyndromic Cleft Lip and Palate in a Chinese Family

Yu,

Yang,

Xia

et al. 2023

International Journal of Genomics

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Nonsyndromic cleft lip with or without cleft palate (NSCL/P) accounts for 70% of the total number of patients with cleft lip with or without cleft palate (CL/P) and is the most common type of congenital deformity of the craniomaxillofacial region. In this study, whole exome sequencing (WES) and Sanger sequencing were performed on affected members of a Han Chinese family, and a missense variant in the platelet-derived growth factor C (PDGFC) gene (NM_016205: c.G93T: p.Q31H) was identified to be associated with NSCL/P. Bioinformatic studies demonstrated that the amino acid corresponding to this variation is highly conserved in many mammals and leads to a glutamine-to-histidine substitution in an evolutionarily conserved DNA-binding domain. It was found that the expression of PDGFC was significantly decreased in the dental pulp stem cells (DPSCs) of NSCL/P cases, compared to the controls, and that the variant (NM_016205: c.G93T) reduced the expression of PDGFC. In addition, the Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway analysis showed that Pdgfc deficiency disrupted NSCL/P-related signaling pathways such as the MAPK signaling pathway and cell adhesion molecules. In conclusion, our study identified a missense variant (NM_016205: c.G93T) in exon 1 of PDGFC potentially associated with susceptibility to NSCL/P.

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“…In one study, mild clinical disease was seen in 81% of symptomatic infected individuals, whereas 19% developed severe disease of whom 5% became critically ill 2 . The case fatality rates are 47% in critically ill patients and acute respiratory distress syndrome (ARDS), acute kidney and myocardial injury are the leading causes of death 3 . ARDS is a prominent feature of those who develop severe pneumonia and is thought to occur due to lung injury caused by the production of high levels of inflammatory cytokines 4 .…”

Section: Introductionmentioning

confidence: 99%

“…Several studies have shown that the cytokine storm directly correlated with the extent of lung injury, multiorgan failure and mortality in patients 5 , 6 . Many different types of inflammatory cytokines such as IL-6, IL-2, IL-7, IL-1β and many others have shown to be associated with clinical disease severity 3 , 5 .…”

Section: Introductionmentioning

confidence: 99%

Similarities and differences between the ‘cytokine storms’ in acute dengue and COVID-19

Dayarathna

Jeewandara

Gomes

et al. 2020

Sci Rep

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Severe pneumonia and multiorgan dysfunction in COVID-19 and dengue haemorrhagic fever (DHF) are two diseases that can associate with an altered immune response to the infecting virus. To determine the similarities and differences in the cytokine and chemokine responses in these two infections, we compared responses in patients with varying severity of COVID-19 and acute dengue at different time points of illness. During early disease, patients who proceeded to develop COVID-19 severe pneumonia (SP) and DHF had significantly higher levels of IL-6, IL-10 and MIP3α than those who developed mild illness. The lowest levels of IFNγ in early illness were seen in those who succumbed to their illness due to COVID-19. Levels of serum IL-10 (p = 0.0001), IL-6 (p = 0.002), MIP-3α (p = 0.02) and CD40-L levels (p = 0.002) significantly increased from 5 to 9 day of illness to 10–21 day of illness in patients with moderate-to-severe COVID-19, but not in those with mild illness. In contrast, these cytokine/chemokine levels remained unchanged in those with DHF or dengue fever (DF) during febrile and critical phases. Although IL-10 levels were significantly higher in COVID-19 patients with SP, patients with DHF had 25-fold higher levels, whereas IL-6 levels were 11-fold higher in those with COVID-19 SP. IL-10 and other cytokines were evaluated in a larger cohort of patients during early illness (≤ 4 days) who proceeded to develop DF (n = 71) or DHF (n = 64). Of the cytokines evaluated, IL-10 was significantly higher (p < 0.0001) in those who went on to develop DHF compared to DF. Low IFNγ response to the SARS-CoV2 and high levels of immunosuppressive IL-10 in both COVID-19 and dengue during early illness are indicators of an altered antiviral response potentially contributing to disease severity.

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A novel FZD6 mutation revealed the cause of cleft lip and/or palate in a Chinese family

Cited by 3 publications

References 36 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

Identification of a Novel Variant of PDGFC Associated with Nonsyndromic Cleft Lip and Palate in a Chinese Family

Similarities and differences between the ‘cytokine storms’ in acute dengue and COVID-19

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