Evidence map›Paper›PMID 39156962›Full record

ArticleFrontiers in genetics2024

Optical genome mapping identifies a homozygous deletion in the non-coding region of the SCN9A gene in individuals from the same family with congenital insensitivity to pain.

Aïcha Boughalem, Viorica Ciorna-Monferrato, Natacha Sloboda, Amélie Guegan, François Page, Sophie Zimmer, Marion Benazra, Pascale Kleinfinger, Laurence Lohmann, Mylène Valduga and 3 more

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Article in Frontiers in genetics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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0citing papers in PubMed
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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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

13 authors.

Aïcha Boughalem *Department of Human Genetics, Laboratoire CERBA SA, Saint Ouen L'aumône, France.
Viorica Ciorna-MonferratoGénétique Médicale et Oncogénétique, Hôpital Femme Mère Enfant, CHR Metz-Thionville, site de Mercy, 1, Allée du Château, Metz Cedex, France.
Natacha SlobodaGénétique Médicale et Oncogénétique, Hôpital Femme Mère Enfant, CHR Metz-Thionville, site de Mercy, 1, Allée du Château, Metz Cedex, France.
Amélie GueganDepartment of Human Genetics, Laboratoire CERBA SA, Saint Ouen L'aumône, France.
François PageDepartment of Human Genetics, Laboratoire CERBA SA, Saint Ouen L'aumône, France.
Sophie ZimmerDepartment of Human Genetics, Laboratoire CERBA SA, Saint Ouen L'aumône, France.
Marion BenazraDepartment of Human Genetics, Laboratoire CERBA SA, Saint Ouen L'aumône, France.
Pascale KleinfingerDepartment of Human Genetics, Laboratoire CERBA SA, Saint Ouen L'aumône, France.
Laurence LohmannDepartment of Human Genetics, Laboratoire CERBA SA, Saint Ouen L'aumône, France.
Mylène ValdugaDepartment of Human Genetics, Laboratoire CERBA SA, Saint Ouen L'aumône, France.
Aline ReceveurDepartment of Human Genetics, Laboratoire CERBA SA, Saint Ouen L'aumône, France.
Fernando MartinDepartment of Human Genetics, Laboratoire CERBA SA, Saint Ouen L'aumône, France.
Detlef Trost *Department of Human Genetics, Laboratoire CERBA SA, Saint Ouen L'aumône, France.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

We report an index patient with complete insensitivity to pain and a history of painless fractures, joint hypermobility, and behavioral problems. The index patient descends from a family with notable cases among his maternal relatives, including his aunt and his mother's first cousin, both of whom suffer from congenital insensitivity to pain. The patient had normal results for prior genetic testing: fragile-X syndrome testing, chromosomal microarray analysis, and exome sequencing. Optical genome mapping detected a homozygous deletion affecting the noncoding 5' untranslated region (UTR) and the first non-coding exon of the

Indexed as

insensitivity to painnon-coding structural variantoptical genome mappingSCN9A genestructural variant detection

Identifiers

PMID39156962
PMCPMC11327051

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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.