Evidence map›Paper›PMID 24854265›Full record

ArticleJournal of the American Society of Nephrology : JASN2014

Improving mutation screening in familial hematuric nephropathies through next generation sequencing.

Vincent Morinière, Karin Dahan, Pascale Hilbert, Marieline Lison, Said Lebbah, Alexandra Topa, Christine Bole-Feysot, Solenn Pruvost, Patrick Nitschke, Emmanuelle Plaisier and 6 more

Open access · greenAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Journal of the American Society of Nephrology : JASN, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 104 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
104citing papers in PubMed, 1 pooled it
6.8field-weighted citation impact, top 2% 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.

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

104 citing papers in PubMed, 1 synthesis or guideline pooled it, 167 citations in OpenAlex.

  1. Diagnosis, management and treatment of the Alport syndrome - 2024 guideline on behalf of ERKNet, ERA and ESPN.Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association · 2025
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44 more citing papers are in PubMed but not listed here.

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

16 authors at 7 institutions in 3 countries.

Vincent MorinièreDepartments of Genetics, and Assistance Publique des Hôpitaux de Paris, Reference Center for Renal Hereditary Disease for Children and Adults (MARHEA), Paris, France;
Karin DahanDepartment of Genetics, Institute of Pathology and Genetics, Gosselies, Belgium;
Pascale HilbertDepartment of Genetics, Institute of Pathology and Genetics, Gosselies, Belgium;
Marieline LisonDepartment of Genetics, Institute of Pathology and Genetics, Gosselies, Belgium;
Said LebbahAssistance Publique des Hôpitaux de Paris, Reference Center for Renal Hereditary Disease for Children and Adults (MARHEA), Paris, France;
Alexandra TopaDepartment of Clinical Genetics, Sahlgrenska University Hospital, Gothenburg, Sweden;
Christine Bole-FeysotGenomics Platform, Imagine Institute, Paris, France;
Solenn PruvostGenomics Platform, Imagine Institute, Paris, France;
Patrick NitschkeBioinformatics Platform, Paris Descartes-Sorbonne Paris Cité University, Paris, France;
Emmanuelle PlaisierAssistance Publique des Hôpitaux de Paris, Nephrology Service, Tenon Hospital, Paris, France;
Bertrand KnebelmannNephrology Service and.
Marie-Alice MacherAssistance Publique des Hôpitaux de Paris, Pediatric Nephrology Service, Robert Debré Hospital, Paris, France; and.
Laure-Hélène NoelPathology, and.
Marie-Claire GublerInstitut National de la Santé et de la Recherche Médicale, Inserm UMR 1163, Laboratory of Inherited Kidney Diseases, Imagine Institute, Paris, France.
Corinne AntignacDepartments of Genetics, and Assistance Publique des Hôpitaux de Paris, Reference Center for Renal Hereditary Disease for Children and Adults (MARHEA), Paris, France; Institut National de la Santé et de la Recherche Médicale, Inserm UMR 1163, Laboratory of Inherited Kidney Diseases, Imagine Institute, Paris, France Paris Descartes-Sorbonne Paris Cité University, and corinne.antignac@inserm.fr.
Laurence HeidetAssistance Publique des Hôpitaux de Paris, Reference Center for Renal Hereditary Disease for Children and Adults (MARHEA), Paris, France; Pediatric Nephrology Service, Assistance Publique des Hôpitaux de Paris, Necker-Enfants Malades Hospital, Paris, France;
Assistance Publique – Hôpitaux de Paris · FRInstitute of Pathology and Genetics · BEInstitut des Maladies Génétiques Imagine · FRSahlgrenska University Hospital · SEDélégation Paris 5 · FRHôpital Tenon · FRInserm · FR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Alport syndrome is an inherited nephropathy associated with mutations in genes encoding type IV collagen chains present in the glomerular basement membrane. COL4A5 mutations are associated with the major X-linked form of the disease, and COL4A3 and COL4A4 mutations are associated with autosomal recessive and dominant forms (thought to be involved in 15% and 1%-5% of the families, respectively) and benign familial hematuria. Mutation screening of these three large genes is time-consuming and expensive. Here, we carried out a combination of multiplex PCR, amplicon quantification, and next generation sequencing (NGS) analysis of three genes in 101 unrelated patients. We identified 88 mutations and 6 variations of unknown significance on 116 alleles in 83 patients. Two additional indel mutations were found only by secondary Sanger sequencing, but they were easily identified retrospectively with the web-based sequence visualization tool Integrative Genomics Viewer. Altogether, 75 mutations were novel. Sequencing the three genes simultaneously was particularly advantageous as the mode of inheritance could not be determined with certainty in many instances. The proportion of mutations in COL4A3 and COL4A4 was notably high, and the autosomal dominant forms of Alport syndrome appear more frequently than reported previously. Finally, this approach allowed the identification of large COL4A3 and COL4A4 rearrangements not described previously. We conclude that NGS is efficient, reduces screening time and cost, and facilitates the provision of appropriate genetic counseling in Alport syndrome.

Indexed as

MutationAdolescentAdultAutoantigensChildChild, PreschoolCohort StudiesCollagen Type IVDNA Mutational AnalysisFamily HealthFemaleGenetic CounselingHeterozygoteHigh-Throughput Nucleotide SequencingHumansMaleAutoantigensCOL4A4 protein, humanCOL4A5 protein, humanCollagen Type IVtype IV collagen alpha3 chainAlport syndromegenetic renal diseasemolecular genetics

Identifiers

PMID24854265
PMCPMC4243343
OpenAlexW2101590985

What OpenQuestion 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 OpenQuestion graph.