Evidence map›Paper›PMID 40213872›Full record

ReviewMolecular genetics & genomic medicine2025

COG6-related prenatal phenotype (CDG2L): Clinico-pathological report and review of the literature.

Sarah Guterman, Agnese Feresin, Lucile Boutaud, Clémence Jacquin, Stanislas Lyonnet, Jean-Pierre Bernard, Claire Colmant, Philippe Roth, Nicolas Bourgon, Pierre Mace and 8 more

Abstract readCase ReportsReview
PubMed Full text at PMC Publisher
In one paragraph

Review in Molecular genetics & genomic medicine, 2025. 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.

  1. 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

18 authors.

Sarah GutermanService de Gynécologie-Obstétrique, Hôpital Necker-Enfants Malades, APHP, Paris, France.
Agnese FeresinService de Médecine Génomique des Maladies Rares, Hôpital Necker-Enfants Malades, APHP, Paris, France.
Lucile BoutaudService de Médecine Génomique des Maladies Rares, Hôpital Necker-Enfants Malades, APHP, Paris, France.
Clémence JacquinService de Génétique, CHU de Reims, Hôpital Maison Blanche, Reims, France.
Stanislas LyonnetService de Médecine Génomique des Maladies Rares, Hôpital Necker-Enfants Malades, APHP, Paris, France.
Jean-Pierre BernardService de Gynécologie-Obstétrique, Hôpital Necker-Enfants Malades, APHP, Paris, France.
Claire ColmantService de Gynécologie-Obstétrique, Hôpital Necker-Enfants Malades, APHP, Paris, France.
Philippe RothService de Gynécologie-Obstétrique, Hôpital Necker-Enfants Malades, APHP, Paris, France.
Nicolas BourgonService de Gynécologie-Obstétrique, Hôpital Necker-Enfants Malades, APHP, Paris, France.
Pierre MaceService de Gynécologie-Obstétrique, Hôpital Necker-Enfants Malades, APHP, Paris, France.
Alice ThoreauService de Gynécologie-Obstétrique, Hôpital Necker-Enfants Malades, APHP, Paris, France.
Yves VilleService de Gynécologie-Obstétrique, Hôpital Necker-Enfants Malades, APHP, Paris, France.
Joana BengoaService de Médecine Génomique des Maladies Rares, Hôpital Necker-Enfants Malades, APHP, Paris, France.
Zaina Ait ArkoubService de Médecine Génomique des Maladies Rares, Hôpital Necker-Enfants Malades, APHP, Paris, France.
Cécile FourrageService de Médecine Génomique des Maladies Rares, Hôpital Necker-Enfants Malades, APHP, Paris, France.
Ferechté Encha-RazaviService de Médecine Génomique des Maladies Rares, Hôpital Necker-Enfants Malades, APHP, Paris, France.
Bettina BessièresService de Médecine Génomique des Maladies Rares, Hôpital Necker-Enfants Malades, APHP, Paris, France.
Tania Attié-BitachService de Médecine Génomique des Maladies Rares, Hôpital Necker-Enfants Malades, APHP, Paris, France.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundCDG2L (MIM#614576) is an autosomal recessive multisystemic disorder due to variants in COG6 gene. Postnatal phenotypes are now well described, while prenatal presentations remain poorly investigated. Only 8 of the 28 published patients have had prenatal ultrasound anomalies reported and no one post-mortem investigation.

methodsWe used whole-exome sequencing in a consanguineous Turkish family with four siblings presenting with Pierre Robin sequence, arthrogryposis, heart malformation, splenomegaly, hydrocephaly, corpus callosum dysgenesis, brainstem, and cerebellar hypoplasia.

resultsWe identified a novel homozygous pathogenic variant in exon 9 of COG6 (NM_020751.2): c.821del, p.(Arg274Lysfs*32). In this family, our post-mortem study led us to describe further the prenatal phenotype of CDG2L. In addition, it permits correlating the most relevant anomalies to a maldevelopmental cascade due to a neurodegenerative process of metabolic origin, affecting the entire central nervous system including the spinal cord.

conclusionIn this context of recurrence of multisystemic disease diagnosed antenatally, exome sequencing is powerful to give a precise diagnosis and allows proposing a molecular prenatal diagnosis at the following pregnancy.

Indexed as

Abnormalities, MultipleAdaptor Proteins, Vesicular TransportConsanguinityExome SequencingFemaleHumansMalePedigreePhenotypePierre Robin SyndromePregnancyPrenatal DiagnosisAdaptor Proteins, Vesicular TransportCOG6 protein, humanarthrogryposiscongenital disorders of glycosylationcorpus callosumexome sequencingprenatal ultrasound

Identifiers

PMID40213872
PMCPMC11986689

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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.