Evidence map›Paper›PMID 38831911›Full record

ArticleNeurology. Genetics2024

A 37-Year-Old Man With Intellectual Disability Discovered to Have Aspartylglucosaminuria: Implications for the Diagnosis of Genetic Causes.

Mutsuo Kouhashi, Kayoko Yukawa, Naoko Yano, Marne C Hagemeijer, Shinya Hirata, Daisuke Kambe, Atsushi Yokoyama, Akira Yoshida, Kengo Kora, Corline J de Ronde and 4 more

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Article in Neurology. Genetics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing 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

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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

2 citing papers in PubMed.

  1. Article
  2. 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

14 authors.

Mutsuo KouhashiFrom the Department of Neurology (M.K., K.Y., S.H., D.K., H.Y.), Japanese Red Cross Wakayama Medical Center; Department of Neurology (M.K., S.H.); Department of Pediatrics (N.Y., A. Yokoyama, K.K., T.Y.), Graduate School of Medicine, Kyoto University, Japan; Center for Lysosomal and Metabolic Diseases (M.C.H., C.J.R., S.V., E.M.), Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, The Netherlands; Department of Neurology (D.K.), Kyoto Kizugawa Hospital; and Department of Pediatrics (A. Yokoyama, A. Yoshida), Japanese Red Cross Wakayama Medical Center, Japan.
Kayoko YukawaFrom the Department of Neurology (M.K., K.Y., S.H., D.K., H.Y.), Japanese Red Cross Wakayama Medical Center; Department of Neurology (M.K., S.H.); Department of Pediatrics (N.Y., A. Yokoyama, K.K., T.Y.), Graduate School of Medicine, Kyoto University, Japan; Center for Lysosomal and Metabolic Diseases (M.C.H., C.J.R., S.V., E.M.), Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, The Netherlands; Department of Neurology (D.K.), Kyoto Kizugawa Hospital; and Department of Pediatrics (A. Yokoyama, A. Yoshida), Japanese Red Cross Wakayama Medical Center, Japan.
Naoko YanoFrom the Department of Neurology (M.K., K.Y., S.H., D.K., H.Y.), Japanese Red Cross Wakayama Medical Center; Department of Neurology (M.K., S.H.); Department of Pediatrics (N.Y., A. Yokoyama, K.K., T.Y.), Graduate School of Medicine, Kyoto University, Japan; Center for Lysosomal and Metabolic Diseases (M.C.H., C.J.R., S.V., E.M.), Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, The Netherlands; Department of Neurology (D.K.), Kyoto Kizugawa Hospital; and Department of Pediatrics (A. Yokoyama, A. Yoshida), Japanese Red Cross Wakayama Medical Center, Japan.
Marne C HagemeijerFrom the Department of Neurology (M.K., K.Y., S.H., D.K., H.Y.), Japanese Red Cross Wakayama Medical Center; Department of Neurology (M.K., S.H.); Department of Pediatrics (N.Y., A. Yokoyama, K.K., T.Y.), Graduate School of Medicine, Kyoto University, Japan; Center for Lysosomal and Metabolic Diseases (M.C.H., C.J.R., S.V., E.M.), Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, The Netherlands; Department of Neurology (D.K.), Kyoto Kizugawa Hospital; and Department of Pediatrics (A. Yokoyama, A. Yoshida), Japanese Red Cross Wakayama Medical Center, Japan.
Shinya HirataFrom the Department of Neurology (M.K., K.Y., S.H., D.K., H.Y.), Japanese Red Cross Wakayama Medical Center; Department of Neurology (M.K., S.H.); Department of Pediatrics (N.Y., A. Yokoyama, K.K., T.Y.), Graduate School of Medicine, Kyoto University, Japan; Center for Lysosomal and Metabolic Diseases (M.C.H., C.J.R., S.V., E.M.), Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, The Netherlands; Department of Neurology (D.K.), Kyoto Kizugawa Hospital; and Department of Pediatrics (A. Yokoyama, A. Yoshida), Japanese Red Cross Wakayama Medical Center, Japan.
Daisuke KambeFrom the Department of Neurology (M.K., K.Y., S.H., D.K., H.Y.), Japanese Red Cross Wakayama Medical Center; Department of Neurology (M.K., S.H.); Department of Pediatrics (N.Y., A. Yokoyama, K.K., T.Y.), Graduate School of Medicine, Kyoto University, Japan; Center for Lysosomal and Metabolic Diseases (M.C.H., C.J.R., S.V., E.M.), Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, The Netherlands; Department of Neurology (D.K.), Kyoto Kizugawa Hospital; and Department of Pediatrics (A. Yokoyama, A. Yoshida), Japanese Red Cross Wakayama Medical Center, Japan.ORCID https://orcid.org/0009-0006-4187-5729
Atsushi YokoyamaFrom the Department of Neurology (M.K., K.Y., S.H., D.K., H.Y.), Japanese Red Cross Wakayama Medical Center; Department of Neurology (M.K., S.H.); Department of Pediatrics (N.Y., A. Yokoyama, K.K., T.Y.), Graduate School of Medicine, Kyoto University, Japan; Center for Lysosomal and Metabolic Diseases (M.C.H., C.J.R., S.V., E.M.), Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, The Netherlands; Department of Neurology (D.K.), Kyoto Kizugawa Hospital; and Department of Pediatrics (A. Yokoyama, A. Yoshida), Japanese Red Cross Wakayama Medical Center, Japan.
Akira YoshidaFrom the Department of Neurology (M.K., K.Y., S.H., D.K., H.Y.), Japanese Red Cross Wakayama Medical Center; Department of Neurology (M.K., S.H.); Department of Pediatrics (N.Y., A. Yokoyama, K.K., T.Y.), Graduate School of Medicine, Kyoto University, Japan; Center for Lysosomal and Metabolic Diseases (M.C.H., C.J.R., S.V., E.M.), Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, The Netherlands; Department of Neurology (D.K.), Kyoto Kizugawa Hospital; and Department of Pediatrics (A. Yokoyama, A. Yoshida), Japanese Red Cross Wakayama Medical Center, Japan.
Kengo KoraFrom the Department of Neurology (M.K., K.Y., S.H., D.K., H.Y.), Japanese Red Cross Wakayama Medical Center; Department of Neurology (M.K., S.H.); Department of Pediatrics (N.Y., A. Yokoyama, K.K., T.Y.), Graduate School of Medicine, Kyoto University, Japan; Center for Lysosomal and Metabolic Diseases (M.C.H., C.J.R., S.V., E.M.), Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, The Netherlands; Department of Neurology (D.K.), Kyoto Kizugawa Hospital; and Department of Pediatrics (A. Yokoyama, A. Yoshida), Japanese Red Cross Wakayama Medical Center, Japan.
Corline J de RondeFrom the Department of Neurology (M.K., K.Y., S.H., D.K., H.Y.), Japanese Red Cross Wakayama Medical Center; Department of Neurology (M.K., S.H.); Department of Pediatrics (N.Y., A. Yokoyama, K.K., T.Y.), Graduate School of Medicine, Kyoto University, Japan; Center for Lysosomal and Metabolic Diseases (M.C.H., C.J.R., S.V., E.M.), Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, The Netherlands; Department of Neurology (D.K.), Kyoto Kizugawa Hospital; and Department of Pediatrics (A. Yokoyama, A. Yoshida), Japanese Red Cross Wakayama Medical Center, Japan.
Sandrien VrieswijkFrom the Department of Neurology (M.K., K.Y., S.H., D.K., H.Y.), Japanese Red Cross Wakayama Medical Center; Department of Neurology (M.K., S.H.); Department of Pediatrics (N.Y., A. Yokoyama, K.K., T.Y.), Graduate School of Medicine, Kyoto University, Japan; Center for Lysosomal and Metabolic Diseases (M.C.H., C.J.R., S.V., E.M.), Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, The Netherlands; Department of Neurology (D.K.), Kyoto Kizugawa Hospital; and Department of Pediatrics (A. Yokoyama, A. Yoshida), Japanese Red Cross Wakayama Medical Center, Japan.
Eric van der MeijdenFrom the Department of Neurology (M.K., K.Y., S.H., D.K., H.Y.), Japanese Red Cross Wakayama Medical Center; Department of Neurology (M.K., S.H.); Department of Pediatrics (N.Y., A. Yokoyama, K.K., T.Y.), Graduate School of Medicine, Kyoto University, Japan; Center for Lysosomal and Metabolic Diseases (M.C.H., C.J.R., S.V., E.M.), Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, The Netherlands; Department of Neurology (D.K.), Kyoto Kizugawa Hospital; and Department of Pediatrics (A. Yokoyama, A. Yoshida), Japanese Red Cross Wakayama Medical Center, Japan.
Takeshi YoshidaFrom the Department of Neurology (M.K., K.Y., S.H., D.K., H.Y.), Japanese Red Cross Wakayama Medical Center; Department of Neurology (M.K., S.H.); Department of Pediatrics (N.Y., A. Yokoyama, K.K., T.Y.), Graduate School of Medicine, Kyoto University, Japan; Center for Lysosomal and Metabolic Diseases (M.C.H., C.J.R., S.V., E.M.), Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, The Netherlands; Department of Neurology (D.K.), Kyoto Kizugawa Hospital; and Department of Pediatrics (A. Yokoyama, A. Yoshida), Japanese Red Cross Wakayama Medical Center, Japan.ORCID https://orcid.org/0000-0003-0992-064X
Hirofumi YamashitaFrom the Department of Neurology (M.K., K.Y., S.H., D.K., H.Y.), Japanese Red Cross Wakayama Medical Center; Department of Neurology (M.K., S.H.); Department of Pediatrics (N.Y., A. Yokoyama, K.K., T.Y.), Graduate School of Medicine, Kyoto University, Japan; Center for Lysosomal and Metabolic Diseases (M.C.H., C.J.R., S.V., E.M.), Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, The Netherlands; Department of Neurology (D.K.), Kyoto Kizugawa Hospital; and Department of Pediatrics (A. Yokoyama, A. Yoshida), Japanese Red Cross Wakayama Medical Center, Japan.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Objectives: The causes of intellectual disability (ID) are varied, with as many as 1,400 causative genes. We attempted to identify the causative gene in a patient with long-standing undiagnosed ID. Methods: Although this was an isolated case with no family history, we searched for the causative gene using trio-based whole-exome sequencing (trio-WES), because severe ID is often caused by genetic variations, and inherited metabolic disorders (IMDs) are assumed to be the cause when regression and epilepsy occur. Results: We identified homozygous donor splice-site variants in the Discussion: We discuss how to more readily achieve an accurate diagnosis for patients with undiagnosed intellectual disabilities. Medical practitioners' awareness of the characteristics of the disease leading to clinical suspicion in patients with matching presentations, and the performance of newborn screening when possible, is important for the diagnosis of ID. In addition, the characteristic symptoms and course of the disease give rise to suspicion of IMDs. Given our results, we consider trio-WES to be a powerful method for identifying the causative genes in cases of ID with genetic causes.

Identifiers

PMID38831911
PMCPMC11145746

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