Evidence map›Paper›PMID 31146700›Full record

Observational studyBMC medical genetics2019

Feeding difficulty is the dominant feature in 12 Chinese newborns with CHD7 pathogenic variants.

Xiang Chen, Kai Yan, Yanyan Gao, Huijun Wang, Guoqiang Chen, Bingbing Wu, Qian Qin, Lin Yang, Wenhao Zhou

Registry-linked trialOpen access · goldAbstract readObservational Study
PubMed Full text at PMC Publisher
In one paragraph

Observational study in BMC medical genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT02551081 (Genomic Sequencing and Personalized Treatment for Birth Defects in Neonatal Intensive Care Units), which is not on this map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed
0.3field-weighted citation impact, top 39% 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

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.

NCT02551081 recruitingnot on this map

Genomic Sequencing and Personalized Treatment for Birth Defects in Neonatal Intensive Care Units

TypeobservationalSponsorChildren's Hospital of Fudan UniversityRan2015 to 2025Enrolled2,000ConditionsGenetic Disease, Multiple Malformation, Congenital Malformation
3 · Its place in the literature

Who cites it

6 citing papers in PubMed, 9 citations in OpenAlex.

  1. [Clinical phenotype and genetic analysis of 7 neonates with CHARGE syndrome caused byZhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2026
    Article
  2. Article
  3. Article
  4. Deletion of theInternational journal of molecular sciences · 2023
    Article
  5. Article
  6. Article
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

9 authors at 1 institution in 1 country.

Xiang ChenDepartments of Neonatology, Children's Hospital of Fudan University, Shanghai, 201102, China.
Kai YanDepartments of Neonatology, Children's Hospital of Fudan University, Shanghai, 201102, China.
Yanyan GaoUltrasonography Unit, Children's Hospital of Fudan University, Shanghai, 201102, China.
Huijun WangShanghai Key Laboratory of Birth Defects, The Translational Medicine Center of Children Development and Disease of Fudan University, Children's Hospital of Fudan University, 399 Wanyuan Road, Shanghai, 201102, China.
Guoqiang ChenDepartments of Neonatology, Children's Hospital of Fudan University, Shanghai, 201102, China.
Bingbing WuShanghai Key Laboratory of Birth Defects, The Translational Medicine Center of Children Development and Disease of Fudan University, Children's Hospital of Fudan University, 399 Wanyuan Road, Shanghai, 201102, China.
Qian QinShanghai Key Laboratory of Birth Defects, The Translational Medicine Center of Children Development and Disease of Fudan University, Children's Hospital of Fudan University, 399 Wanyuan Road, Shanghai, 201102, China. qingqian89@outlook.com.
Lin YangDepartments of Endocrinology, Children's Hospital of Fudan University, 399 Wanyuan Road, Shanghai, 201102, China. yanglin_fudan@163.com.ORCID 0000-0003-2193-9597
Wenhao ZhouDepartments of Neonatology, Children's Hospital of Fudan University, Shanghai, 201102, China.
Children's Hospital of Fudan University · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundCHARGE syndrome is characterized by coloboma, heart defects, choanal atresia, growth retardation, genitourinary malformation and ear abnormalities. The chromodomain helicase DNA-binding protein 7 (CHD7) gene is the major cause of CHARGE syndrome and is inherited in an autosomal dominant manner. Currently, the phenotype spectrum of CHARGE syndrome in neonatal population remain elusive. We aimed to investigate the phenotype spectrum of neonatal patients suspected to have CHARGE syndrome with pathogenic or likely pathogenic variants in the CHD7 gene.

methodsWe pooled next-generation sequencing data from the Neonatal Birth Defects Cohort (NBDC, ClinicalTrials.gov Identifier: NCT02551081) in Children's Hospital of Fudan University. The pathogenicity of novel variants was analyzed by bioinformatic and genetic analyses. Clinical information collection, Sanger sequencing and follow-up interviews were performed when possible. Cranial MRI of these patients was performed, the volumes of different regions of the brain were analyzed.

resultsA total of 12 unrelated patients in our cohort were found with CHD7 variants. Eight patients received a firm clinical diagnosis of CHARGE syndrome (Bergmann criteria, Blake criteria, Verloes criteria and Hale criteria). Three patients did not match any diagnostic criteria, and no patients matched the Verloes criteria. Phenotype spectrum analysis found that feeding difficulty was the dominant feature among this neonatal cohort. Six novel variants in the CHD7 gene (Glu2408*, Lys651*, c.5607 + 1G > T, Leu373Val, Lys2005Asnfs*37 and Gln1991*) were identified, expanding the variant database of the CHD7 gene. Cranial MRI analysis revealed significant volume loss in cingulate gyrus, occipital lobe, and cerebellum and volume gain in the left medial and inferior temporal gyri anterior white matter parts.

conclusionsBased on a relatively unbiased neonatal cohort, we concluded that CHARGE syndrome and CHD7 gene variants should be suspected in newborns who have feeding difficulty, and one or more malformations.

trial registrationNeonatal Birth Defects Cohort (NBDC, ClinicalTrials.gov identifier: NCT02551081 ).

Indexed as

MutationAsian PeopleCHARGE SyndromeChinaCohort StudiesDNA-Binding ProteinsDNA HelicasesFeeding and Eating DisordersFemaleGenetic Predisposition to DiseaseHigh-Throughput Nucleotide SequencingHumansInfant, NewbornMaleNeonatal ScreeningPhenotypeCHD7 protein, humanDNA-Binding ProteinsDNA HelicasesCHARGE syndromeCHD7 geneFeeding difficultyNewbornVariant

Identifiers

PMID31146700
PMCPMC6543684
OpenAlexW2947995802

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

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.