ArticleThe Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association2011
CRISPLD2 variants including a C471T silent mutation may contribute to nonsyndromic cleft lip with or without cleft palate.
Article in The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 34 citations in OpenAlex.
- A Comprehensive Review of the Genetic Etiology and Management of Orofacial Clefts.Pediatric discovery · 2026Review
- Decreased CRISPLD2 expression impairs osteogenic differentiation of human mesenchymal stem cells during in vitro expansion.Journal of cellular physiology · 2023Article
- Disruption ofFrontiers in cell and developmental biology · 2023Article
- Article
- Association of IFT88 gene variants with nonsyndromic cleft lip with or without cleft palate.Birth defects research · 2019Article
- 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
- Tracing the Evolutionary History of the CAP Superfamily of Proteins Using Amino Acid Sequence Homology and Conservation of Splice Sites.Journal of molecular evolution · 2017Article
- Distinct DNA methylation profiles in subtypes of orofacial cleft.Clinical epigenetics · 2017Article
- Crispld2 is required for neural crest cell migration and cell viability during zebrafish craniofacial development.Genesis (New York, N.Y. : 2000) · 2015Article
- Craniofacial abnormalities result from knock down of nonsyndromic clefting gene, crispld2, in zebrafish.Genesis (New York, N.Y. : 2000) · 2012Article
- The evolution of human genetic studies of cleft lip and cleft palate.Annual review of genomics and human genetics · 2012Review
- Nonsyndromic cleft lip and palate: CRISPLD genes and the folate gene pathway connection.Birth defects research. Part A, Clinical and molecular teratology · 2011Article
Corrections and comments
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Authors and funding
18 authors at 5 institutions in 3 countries.
Funding
Abstract
objectiveTo assess the association between nonsyndromic (NS) cleft lip with or without cleft palate (CL(P)) and single-nucleotide polymorphisms (SNPs) within the CRISPLD2 gene (cysteine-rich secretory protein LCCL domain containing 2).
designFour SNPs within the CRISPLD2 gene domain (rs1546124, rs8061351, rs2326398, rs4783099) were genotyped to test for association via family-based association methods.
participantsA total of 5826 individuals from 1331 families in which one or more family member is affected with CL(P).
resultsEvidence of association was seen for SNP rs1546124 in U.S. (p = .02) and Brazilian (p = .04) Caucasian cohorts. We also found association of SNP rs1546124 with cleft palate alone (CP) in South Americans (Guatemala and ECLAMC) and combined Hispanics (Guatemala, ECLAMC, and Texas Hispanics; p = .03 for both comparisons) and with both cleft lip with cleft palate (CLP; p = .04) and CL(P) (p = .02) in North Americans. Strong evidence of association was found for SNP rs2326398 with CP in Asian populations (p = .003) and with CL(P) in Hispanics (p = .03) and also with bilateral CL(P) in Brazilians (p = .004). In Brazilians, SNP rs8061351 showed association with cleft subgroups incomplete CL(P) (p = .004) and unilateral incomplete CL(P) (p = .003). Prediction of SNP functionality revealed that the C allele in the C471T silent mutation (overrepresented in cases with CL(P) presents two putative exonic splicing enhancer motifs and creates a binding site AP-2 alpha, a transcription factor involved in craniofacial development.
conclusionsOur results support the hypothesis that variants in the CRISPLD2 gene may be involved in the etiology of NS CL(P).
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