Evidence map›Paper›PMID 42787608›Full record

ArticleHuman mutation2026

Whole Genome Sequencing of Discordant Monozygotic Twins Reveals Regulatory Variants Associated With Nonsyndromic Orofacial Clefts.

Emmanuel Temitope Aladenika, Mojisola Olujitan, Tamara Busch, Lord Gowans, Wasiu Adeyemo, Adegbayi Adeola Adekunle, Mekonen Eshete, Oluwafunmi Ajala, Rishitha Gadde, Nina Mba and 2 more

Abstract read
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In one paragraph

Article in Human mutation, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

12 authors.

Emmanuel Temitope AladenikaIowa Institute for Oral Health Research, University of Iowa, Iowa City, Iowa, USA, uiowa.edu.ORCID https://orcid.org/0000-0003-1349-1753
Mojisola OlujitanIowa Institute for Oral Health Research, University of Iowa, Iowa City, Iowa, USA, uiowa.edu.ORCID https://orcid.org/0009-0007-9312-1651
Tamara BuschIowa Institute for Oral Health Research, University of Iowa, Iowa City, Iowa, USA, uiowa.edu.ORCID https://orcid.org/0009-0006-6252-6966
Lord GowansKomfo Anokye Teaching Hospital and Kwame Nkrumah University of Science and Technology, Kumasi, Ghana.ORCID https://orcid.org/0000-0003-0080-9101
Wasiu AdeyemoDepartment of Oral and Maxillofacial Surgery, College of Medicine, University of Lagos, Lagos, Nigeria, unilag.edu.ng.
Adegbayi Adeola AdekunleDepartment of Oral and Maxillofacial Surgery, College of Medicine, University of Lagos, Lagos, Nigeria, unilag.edu.ng.ORCID https://orcid.org/0000-0001-5679-4469
Mekonen EsheteAddis Ababa University College of Health Sciences, School of Medicine, Surgical Department, Addis Ababa, Ethiopia, aau.edu.et.ORCID https://orcid.org/0000-0002-6164-4083
Oluwafunmi AjalaIowa Institute for Oral Health Research, University of Iowa, Iowa City, Iowa, USA, uiowa.edu.ORCID https://orcid.org/0009-0007-3987-3457
Rishitha GaddeIowa Institute for Oral Health Research, University of Iowa, Iowa City, Iowa, USA, uiowa.edu.
Nina MbaIowa Institute for Oral Health Research, University of Iowa, Iowa City, Iowa, USA, uiowa.edu.
Azeez AladeNational Institute of Dental and Craniofacial Research, Bethesda, Maryland, USA.
Azeez ButaliIowa Institute for Oral Health Research, University of Iowa, Iowa City, Iowa, USA, uiowa.edu.ORCID https://orcid.org/0000-0002-1229-5964

Funding

Whole Genome Sequencing for Orofacial Clefts, Incidental Findings and Role of Community GatekeepersR01DE028300 · NIDCR · UNIVERSITY OF IOWA · PI BUTALI, AZEEZ · 2020 to 2024
$3.9M
Identification of Rare Variants for Orofacial Clefts Using Publicly Available DatasetsR03DE035068 · NIDCR · UNIVERSITY OF IOWA · PI BUTALI, AZEEZ · 2025 to 2025
$296k
NIDCR NIH HHS R01 DE028300NIDCR NIH HHS R03 DE035068
6 · The paper itself

Abstract

Monozygotic (MZ) twins are expected to share nearly identical genomes, yet a substantial proportion is discordant for complex diseases like nonsyndromic orofacial clefts (nsOFC). This suggests a role for postzygotic discordant genetic variations and other developmental mechanisms. In this study, we performed whole genome sequencing of two MZ twin pairs of African ancestry who were discordant for nsOFC to identify genetic variants that may contribute to phenotypic discordance. Following quality control and genotype-level filtering, we identified 37,271 variants that were present exclusively in the affected twins. Of these, 431 variants were predicted by CADD to have deleterious effects. Among these, 66 were in protein-coding regions, including 2 predicted protein-altering missense variants and splice-site variants. The remaining 365 variants were in noncoding regions including putative craniofacial enhancers. Some of these variants are rare (MAF < 0.01) and were predicted to alter transcription factor binding or disrupt local chromatin architecture within putative craniofacial enhancers located near genes with established roles in craniofacial development, including

Indexed as

Cleft LipCleft PalateGenetic VariationTwins, MonozygoticWhole Genome SequencingFemaleGenetic Predisposition to DiseaseHumansMalePhenotypePolymorphism, Single Nucleotide

Identifiers

PMID42787608
PMCPMC13601850

What Socratic holds

Textmetadata
Read underepoch 390

Registered trials

None linked

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 Socratic graph.