Evidence map›Paper›PMID 37452054›Full record

ArticleHuman genome variation2023

X-linked intellectual disability related to a novel variant of KLHL15.

Jun Kido, Kimiyasu Egami, Yohei Misumi, Keishin Sugawara, Naomi Tsuchida, Naomichi Matsumoto, Mitsuharu Ueda, Kimitoshi Nakamura

Abstract read
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In one paragraph

Article in Human genome variation, 2023. 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
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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

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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

8 authors.

Jun KidoDepartment of Pediatrics, Kumamoto University Hospital, Kumamoto, Japan. kidojun@kuh.kumamoto-u.ac.jp.ORCID http://orcid.org/0000-0003-1328-6696
Kimiyasu EgamiEgami Children Clinic, Kumamoto, Japan.
Yohei MisumiDepartment of Neurology, Kumamoto University Hospital, Kumamoto, Japan.
Keishin SugawaraDepartment of Pediatrics, Faculty of Life Sciences, Kumamoto University, Kumamoto, Japan.
Naomi TsuchidaDepartment of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.ORCID http://orcid.org/0000-0001-7203-884X
Naomichi MatsumotoDepartment of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Mitsuharu UedaDepartment of Neurology, Kumamoto University Hospital, Kumamoto, Japan.ORCID http://orcid.org/0000-0002-6814-0582
Kimitoshi NakamuraDepartment of Pediatrics, Kumamoto University Hospital, Kumamoto, Japan.

Funding

Japan Agency for Medical Research and Development (AMED) JP22ek0109549Japan Agency for Medical Research and Development (AMED) JP22ek010993MEXT | Japan Society for the Promotion of Science (JSPS) JP 20K08207MEXT | Japan Society for the Promotion of Science (JSPS) JP 23K07316MEXT | Japan Society for the Promotion of Science (JSPS) JP23K15353
6 · The paper itself

Abstract

Kelch-like (KLHL) 15, localized on chromosome Xp22.11, was recently identified as an X-linked intellectual disability gene. Herein, we report a case of a male patient with a novel nonsense variant, c.736 C > T p.(Arg246*), in KLHL15, who presented with impaired intelligence, short stature, frequent hypoglycemia, and periodic fever. Patients with nonsense variants in KLHL15 may develop intellectual disabilities, minor skeletal anomalies, and facial dysmorphisms.

Identifiers

PMID37452054
PMCPMC10349042

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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.