Evidence map›Paper›PMID 39060265›Full record

ArticleHuman genome variation2024

Homozygous 6-bp deletion of IGFALS in a prepubertal boy with short stature.

Hibiki Doi, Ikuko Kageyama, Yuko Katoh-Fukui, Atsushi Hattori, Maki Fukami, Naoto Shimura

Abstract read
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In one paragraph

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

0numbers the graph read from it
0cells of the map it votes in
0citing 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

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

6 authors.

Hibiki DoiDepartment of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan.
Ikuko KageyamaDepartment of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan.
Yuko Katoh-FukuiDepartment of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan.
Atsushi HattoriDepartment of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan.ORCID http://orcid.org/0000-0003-1511-4820
Maki FukamiDepartment of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan. fukami-m@ncchd.go.jp.ORCID http://orcid.org/0000-0001-9971-4035
Naoto ShimuraDepartment of Pediatrics, Tokyo Rinkai Hospital, Tokyo, Japan.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Biallelic IGFALS variants lead to acid‒labile subunit (ALS) deficiency characterized by growth hormone resistance with or without delayed puberty. Here, we report a prepubertal boy with a homozygous 2-amino acid deletion within the fourth N-glycosylation motif (c.1103_1108del, p.N368_S370delinsT) associated with parental consanguinity. He showed short stature consistent with ALS deficiency. This case expands the mutation spectrum of IGFALS to include the elimination of only one N-glycosylation motif of ALS.

Identifiers

PMID39060265
PMCPMC11282113

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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.