Case report and functional verification of a novel mutation in the interferon regulatory transcription factor 6 gene in a family with orofacial clefts.

Fengjuan Ding, Fei Hou, Shan Shan, Yan Zhao, Hua Jin

Abstract read

In one paragraph

Article in American journal of translational research, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it

0cells of the map it votes in

1citing 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

1 citing paper in PubMed.

The Evolution of Gene Sequencing Technologies: Unveiling Genetic Architecture of Nonsyndromic Orofacial Clefts.Genetics research · 2026
Review

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

5 authors.

Fengjuan DingDepartment of Prenatal Diagnosis Center, Jinan Maternal and Child Health Hospital Jinan 250001, Shandong, China.

Fei HouDepartment of Prenatal Diagnosis Center, Jinan Maternal and Child Health Hospital Jinan 250001, Shandong, China.

Shan ShanDepartment of Prenatal Diagnosis Center, Jinan Maternal and Child Health Hospital Jinan 250001, Shandong, China.

Yan ZhaoDepartment of Prenatal Diagnosis Center, Jinan Maternal and Child Health Hospital Jinan 250001, Shandong, China.

Hua JinDepartment of Prenatal Diagnosis Center, Jinan Maternal and Child Health Hospital Jinan 250001, Shandong, China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundThis study aimed to identify the causative genetic variant in a Chinese family with orofacial clefts.

methodsWe retrospectively analyzed the clinical information of a family with orofacial clefts. Then, we performed an etiological genetic analysis of the family using whole exome sequencing analysis and Sanger sequencing. We created a hybrid code-shifting mutation cell line (293T-462het) and evaluated its impact on cell proliferation, migration, and apoptosis, as well as E-cadherin and vimentin expression.

resultsWhole exome sequencing revealed a novel heterozygous variant c.1386del (p.A462Pfs*28) in the interferon regulatory transcription factor 6 (

conclusionThis study identified a novel c.1386del mutation in the

Indexed as

functional verificationIRF6next-generation sequencingOrofacial cleftprenatal diagnosis

Identifiers

PMID39114717

DOI10.62347/IAQV2788

PMCPMC11301462

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.