Evidence map›Paper›PMID 33510771›Full record

ArticleFrontiers in genetics2020

Case Report: Prenatal Diagnosis of a Fetus With Harlequin Ichthyosis Identifies Novel Compound Heterozygous Variants: A Case Report.

Jiao Liu, Xingyu Zhang, Weilan Wang, Xiaofang Lan, Minyue Dong, Kai Yan, Yongliang Lei, Penglong Chen, Mufeng Yang, Qunda Shan and 1 more

Open access · goldAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Frontiers in genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
0.7field-weighted citation impact, top 38% of its field
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

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3 · Its place in the literature

Who cites it

5 citing papers in PubMed, 7 citations in OpenAlex.

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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

11 authors at 4 institutions in 1 country.

Jiao LiuCenter of Medical Prenatal Diagnosis, Lishui Maternity and Child Health Care Hospital, Lishui, China.
Xingyu ZhangShanghai Children's Medical Center, Institute of Pediatric Translational Medicine, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Weilan WangDepartment of Dermatology, Shaoxing Central Hospital, Shaoxing, China.
Xiaofang LanCenter of Medical Prenatal Diagnosis, Lishui Maternity and Child Health Care Hospital, Lishui, China.
Minyue DongDepartment of Reproductive Genetics, Women's Hospital, School of Medicine, Zhejiang University, Hangzhou, China.
Kai YanDepartment of Reproductive Genetics, Women's Hospital, School of Medicine, Zhejiang University, Hangzhou, China.
Yongliang LeiCenter of Medical Prenatal Diagnosis, Lishui Maternity and Child Health Care Hospital, Lishui, China.
Penglong ChenCenter of Medical Prenatal Diagnosis, Lishui Maternity and Child Health Care Hospital, Lishui, China.
Mufeng YangCenter of Medical Prenatal Diagnosis, Lishui Maternity and Child Health Care Hospital, Lishui, China.
Qunda ShanCenter of Medical Prenatal Diagnosis, Lishui Maternity and Child Health Care Hospital, Lishui, China.
Chunlei JinCenter of Medical Prenatal Diagnosis, Lishui Maternity and Child Health Care Hospital, Lishui, China.
Lishui Maternity and Child Health Care Hospital · CNWomen's Hospital, School of Medicine, Zhejiang University · CNShanghai Children's Medical Center · CNShaoxing People's Hospital · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundHarlequin ichthyosis (HI) is the most severe form of the keratinizing disorders, and it is characterized by whole-body hard stratum corneum.

methodsA case of HI was prenatally diagnosed by ultrasonography and genetic tests. The fetus had been found with dentofacial deformity and profound thickening of the palm and plantar soft tissues. Chromosomal microarray analysis (CMA) and whole exome sequencing (WES) were then performed on the amniotic fluid to identify germline pathogenic variants for the fetus. Candidate variants were verified by Sanger sequencing.

resultsCompound heterozygous frameshift variants (p.Q719QfsX21; p.F2286LfsX6) of

conclusionA prenatal molecular diagnosis is an important approach for the prevention of HI. In the study, we provided a successful case of genetic counseling for a family with an HI baby.

Indexed as

ABCA12 gene mutationautosomal recessivefetusharlequin ichthyosisskin abnormalities

Identifiers

PMID33510771
PMCPMC7835937
OpenAlexW3119362159

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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.