ArticleMolecular genetics & genomic medicine2015
Regulatory variant in FZD6 gene contributes to nonsyndromic cleft lip and palate in an African-American family.
Article in Molecular genetics & genomic medicine, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers, 1 of them a synthesis that pooled it.
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Who cites it
15 citing papers in PubMed, 1 synthesis or guideline pooled it, 27 citations in OpenAlex.
- Imputation of orofacial clefting data identifies novel risk loci and sheds light on the genetic background of cleft lip ± cleft palate and cleft palate only.Human molecular genetics · 2017Pooled it
- Investigating and correcting a rare pathogenic mutation in GDF11.HGG advances · 2026Article
- Functional Validation of Noncoding Variants Associated With Nonsyndromic Orofacial Cleft.Human mutation · 2025Review
- Prioritization of non-coding elements involved in non-syndromic cleft lip with/without cleft palate through genome-wide analysis ofHGG advances · 2023Article
- Polygenic risk impacts PDGFRA mutation penetrance in non-syndromic cleft lip and palate.Human molecular genetics · 2022Article
- Role of Fzd6 in Regulating the Osteogenic Differentiation of Adipose-derived Stem Cells in Osteoporotic Mice.Stem cell reviews and reports · 2021Article
- DNA Methylation Variation Is Identified in Monozygotic Twins Discordant for Non-syndromic Cleft Lip and Palate.Frontiers in cell and developmental biology · 2021Article
- Genetics and signaling mechanisms of orofacial clefts.Birth defects research · 2020Review
- A novelGenes & diseases · 2020Article
- A systematic genetic analysis and visualization of phenotypic heterogeneity among orofacial cleft GWAS signals.Genetic epidemiology · 2019Article
- Wnt signaling in orofacial clefts: crosstalk, pathogenesis and models.Disease models & mechanisms · 2019Review
- Knockdown of Crispld2 in zebrafish identifies a novel network for nonsyndromic cleft lip with or without cleft palate candidate genes.European journal of human genetics : EJHG · 2018Article
- Zebrafish models of orofacial clefts.Developmental dynamics : an official publication of the American Association of Anatomists · 2017Review
- Planar cell polarity genes frizzled4 and frizzled6 exert patterning influence on arterial vessel morphogenesis.PloS one · 2017Article
- Rare Variants in NOD1 Associated with Carotid Bifurcation Intima-Media Thickness in Dominican Republic Families.PloS one · 2016Article
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Authors and funding
11 authors at 4 institutions in 1 country.
Funding
Abstract
Nonsyndromic cleft lip with or without cleft palate (NSCLP) is a common birth defect affecting 135,000 newborns worldwide each year. While a multifactorial etiology has been suggested as the cause, despite decades of research, the genetic underpinnings of NSCLP remain largely unexplained. In our previous genome-wide linkage study of a large NSCLP African-American family, we identified a candidate locus at 8q21.3-24.12 (LOD = 2.98). This region contained four genes, Frizzled-6 (FZD6), Matrilin-2 (MATN2), Odd-skipped related 2 (OSR2) and Solute Carrier Family 25, Member 32 (SLC25A32). FZD6 was located under the maximum linkage peak. In this study, we sequenced the coding and noncoding regions of these genes in two affected family members, and identified a rare variant in intron 1 of FZD6 (rs138557689; c.-153 + 432A>C). The variant C allele segregated with NSCLP in this family, through affected and unaffected individuals, and was found in one other NSCLP African-American family. Functional assays showed that this allele creates an allele-specific protein-binding site and decreases promoter activity. We also observed that loss and gain of fzd6 in zebrafish contributes to craniofacial anomalies. FZD6 regulates the WNT signaling pathway, which is involved in craniofacial development, including midfacial formation and upper labial fusion. We hypothesize, therefore, that alteration in FZD6 expression contributes to NSCLP in this family by perturbing the WNT signaling pathway.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.