Evidence map›Paper›PMID 41006206›Full record

ArticleHuman genome variation2025

Juvenile/adult-type galactosialidosis with a homozygous CTSA variant without consanguinity.

Machiko Toki, Kazushige Tsunoda, Tetsumin So, Motomichi Kosuga, Torayuki Okuyama, Masashi Miharu, Tomonobu Hasegawa, Kazuki Yamazawa

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Human genome variation, 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

8 authors.

Machiko TokiDepartment of Pediatrics, NHO Tokyo Medical Center, Tokyo, Japan.
Kazushige TsunodaDivision of Vision Research, National Institute of Sensory Organs, NHO Tokyo Medical Center, Tokyo, Japan.
Tetsumin SoDivision of Medical Genetics, National Center for Child Health and Development, Tokyo, Japan.
Motomichi KosugaDivision of Medical Genetics, National Center for Child Health and Development, Tokyo, Japan.
Torayuki OkuyamaDepartment of Pediatrics and Clinical Genomics, Saitama Medical University, Saitama, Japan.
Masashi MiharuDepartment of Pediatrics, NHO Tokyo Medical Center, Tokyo, Japan.
Tomonobu HasegawaDepartment of Pediatrics, Keio University School of Medicine, Tokyo, Japan.ORCID http://orcid.org/0000-0002-0143-3989
Kazuki YamazawaDepartment of Pediatrics, NHO Tokyo Medical Center, Tokyo, Japan. kyamazawa@ntmc-genet.jp.ORCID http://orcid.org/0000-0003-4895-2759

Funding

MEXT | Japan Society for the Promotion of Science (JSPS) 21K19751MEXT | Japan Society for the Promotion of Science (JSPS) 22H03048MEXT | Japan Society for the Promotion of Science (JSPS) 23K24309Ministry of Health, Labour and Welfare (Ministry of Health, Labour and Welfare, Japan) 23FC1043Wellcome Trust FC001043
6 · The paper itself

Abstract

Here we report a Japanese patient with juvenile/adult-type galactosialidosis carrying a homozygous c.692+3A>G CTSA variant. Comprehensive genetic analyses including exome sequencing, chromosomal microarray and homozygosity mapping supported biallelic inheritance of this variant and suggested a founder effect in the Japanese population. Clinically, the patient exhibited typical features of the juvenile/adult-type galactosialidosis, with growth impairment noted during adolescence as a less conspicuous but relevant observation.

Identifiers

PMID41006206
PMCPMC12474988

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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.