Evidence map›Paper›PMID 37346931›Full record

ArticleNeurology. Genetics2023

Identification of an 85-kb Heterozygous 4p Microdeletion With Full Genome Analysis in Autosomal Dominant Charcot-Marie-Tooth Disease.

Hsueh Wen Hsueh, Hsiao-Jung Kao, Chi-Chao Chao, Sung-Ju Hsueh, Yu-Ning Huang, Wan-Jia Lin, Jen-Ping Su, Horng-Tzer Shy, Ti-Yen Yeh, Cheng-Chen Lin and 3 more

Open access · goldAbstract read
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In one paragraph

Article in Neurology. Genetics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
0.6field-weighted citation impact, top 37% of its field
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

3 citing papers in PubMed, 4 citations in OpenAlex.

  1. Article
  2. Article
  3. A familial chromosome 4p16.3 terminal microdeletion that does not cause Wolf-Hirschhorn (4p-) syndrome.Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology · 2024
    Article
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 at 1 institution in 2 countries.

Hsueh Wen HsuehFrom the Department of Neurology (H.W.H., C.-C.C., Y.-N.H., S.-T.H.), Department of Anatomy and Cell Biology (H.W.H., H.-T.S., T.-Y.Y., C.-C.L., S.-T.H.), National Taiwan University College of Medicine; Institute of Biomedical Sciences (H.-J.K., W.-J.L., J.-P.S., P.-Y.K.), Academia Sinica, Taipei; Department of Neurology (S.-J.H.), National Taiwan University Hospital Yunlin Branch; Institute for Human Genetics (P.-Y.K.), Cardiovascular Research Institute, and Department of Dermatology, University of California, San Francisco; and Department of Medical Genetics (N.-C.L.), National Taiwan University Hospital, Taipei.
Hsiao-Jung KaoFrom the Department of Neurology (H.W.H., C.-C.C., Y.-N.H., S.-T.H.), Department of Anatomy and Cell Biology (H.W.H., H.-T.S., T.-Y.Y., C.-C.L., S.-T.H.), National Taiwan University College of Medicine; Institute of Biomedical Sciences (H.-J.K., W.-J.L., J.-P.S., P.-Y.K.), Academia Sinica, Taipei; Department of Neurology (S.-J.H.), National Taiwan University Hospital Yunlin Branch; Institute for Human Genetics (P.-Y.K.), Cardiovascular Research Institute, and Department of Dermatology, University of California, San Francisco; and Department of Medical Genetics (N.-C.L.), National Taiwan University Hospital, Taipei.
Chi-Chao ChaoFrom the Department of Neurology (H.W.H., C.-C.C., Y.-N.H., S.-T.H.), Department of Anatomy and Cell Biology (H.W.H., H.-T.S., T.-Y.Y., C.-C.L., S.-T.H.), National Taiwan University College of Medicine; Institute of Biomedical Sciences (H.-J.K., W.-J.L., J.-P.S., P.-Y.K.), Academia Sinica, Taipei; Department of Neurology (S.-J.H.), National Taiwan University Hospital Yunlin Branch; Institute for Human Genetics (P.-Y.K.), Cardiovascular Research Institute, and Department of Dermatology, University of California, San Francisco; and Department of Medical Genetics (N.-C.L.), National Taiwan University Hospital, Taipei.
Sung-Ju HsuehFrom the Department of Neurology (H.W.H., C.-C.C., Y.-N.H., S.-T.H.), Department of Anatomy and Cell Biology (H.W.H., H.-T.S., T.-Y.Y., C.-C.L., S.-T.H.), National Taiwan University College of Medicine; Institute of Biomedical Sciences (H.-J.K., W.-J.L., J.-P.S., P.-Y.K.), Academia Sinica, Taipei; Department of Neurology (S.-J.H.), National Taiwan University Hospital Yunlin Branch; Institute for Human Genetics (P.-Y.K.), Cardiovascular Research Institute, and Department of Dermatology, University of California, San Francisco; and Department of Medical Genetics (N.-C.L.), National Taiwan University Hospital, Taipei.
Yu-Ning HuangFrom the Department of Neurology (H.W.H., C.-C.C., Y.-N.H., S.-T.H.), Department of Anatomy and Cell Biology (H.W.H., H.-T.S., T.-Y.Y., C.-C.L., S.-T.H.), National Taiwan University College of Medicine; Institute of Biomedical Sciences (H.-J.K., W.-J.L., J.-P.S., P.-Y.K.), Academia Sinica, Taipei; Department of Neurology (S.-J.H.), National Taiwan University Hospital Yunlin Branch; Institute for Human Genetics (P.-Y.K.), Cardiovascular Research Institute, and Department of Dermatology, University of California, San Francisco; and Department of Medical Genetics (N.-C.L.), National Taiwan University Hospital, Taipei.
Wan-Jia LinFrom the Department of Neurology (H.W.H., C.-C.C., Y.-N.H., S.-T.H.), Department of Anatomy and Cell Biology (H.W.H., H.-T.S., T.-Y.Y., C.-C.L., S.-T.H.), National Taiwan University College of Medicine; Institute of Biomedical Sciences (H.-J.K., W.-J.L., J.-P.S., P.-Y.K.), Academia Sinica, Taipei; Department of Neurology (S.-J.H.), National Taiwan University Hospital Yunlin Branch; Institute for Human Genetics (P.-Y.K.), Cardiovascular Research Institute, and Department of Dermatology, University of California, San Francisco; and Department of Medical Genetics (N.-C.L.), National Taiwan University Hospital, Taipei.
Jen-Ping SuFrom the Department of Neurology (H.W.H., C.-C.C., Y.-N.H., S.-T.H.), Department of Anatomy and Cell Biology (H.W.H., H.-T.S., T.-Y.Y., C.-C.L., S.-T.H.), National Taiwan University College of Medicine; Institute of Biomedical Sciences (H.-J.K., W.-J.L., J.-P.S., P.-Y.K.), Academia Sinica, Taipei; Department of Neurology (S.-J.H.), National Taiwan University Hospital Yunlin Branch; Institute for Human Genetics (P.-Y.K.), Cardiovascular Research Institute, and Department of Dermatology, University of California, San Francisco; and Department of Medical Genetics (N.-C.L.), National Taiwan University Hospital, Taipei.
Horng-Tzer ShyFrom the Department of Neurology (H.W.H., C.-C.C., Y.-N.H., S.-T.H.), Department of Anatomy and Cell Biology (H.W.H., H.-T.S., T.-Y.Y., C.-C.L., S.-T.H.), National Taiwan University College of Medicine; Institute of Biomedical Sciences (H.-J.K., W.-J.L., J.-P.S., P.-Y.K.), Academia Sinica, Taipei; Department of Neurology (S.-J.H.), National Taiwan University Hospital Yunlin Branch; Institute for Human Genetics (P.-Y.K.), Cardiovascular Research Institute, and Department of Dermatology, University of California, San Francisco; and Department of Medical Genetics (N.-C.L.), National Taiwan University Hospital, Taipei.
Ti-Yen YehFrom the Department of Neurology (H.W.H., C.-C.C., Y.-N.H., S.-T.H.), Department of Anatomy and Cell Biology (H.W.H., H.-T.S., T.-Y.Y., C.-C.L., S.-T.H.), National Taiwan University College of Medicine; Institute of Biomedical Sciences (H.-J.K., W.-J.L., J.-P.S., P.-Y.K.), Academia Sinica, Taipei; Department of Neurology (S.-J.H.), National Taiwan University Hospital Yunlin Branch; Institute for Human Genetics (P.-Y.K.), Cardiovascular Research Institute, and Department of Dermatology, University of California, San Francisco; and Department of Medical Genetics (N.-C.L.), National Taiwan University Hospital, Taipei.
Cheng-Chen LinFrom the Department of Neurology (H.W.H., C.-C.C., Y.-N.H., S.-T.H.), Department of Anatomy and Cell Biology (H.W.H., H.-T.S., T.-Y.Y., C.-C.L., S.-T.H.), National Taiwan University College of Medicine; Institute of Biomedical Sciences (H.-J.K., W.-J.L., J.-P.S., P.-Y.K.), Academia Sinica, Taipei; Department of Neurology (S.-J.H.), National Taiwan University Hospital Yunlin Branch; Institute for Human Genetics (P.-Y.K.), Cardiovascular Research Institute, and Department of Dermatology, University of California, San Francisco; and Department of Medical Genetics (N.-C.L.), National Taiwan University Hospital, Taipei.
Pui-Yan KwokFrom the Department of Neurology (H.W.H., C.-C.C., Y.-N.H., S.-T.H.), Department of Anatomy and Cell Biology (H.W.H., H.-T.S., T.-Y.Y., C.-C.L., S.-T.H.), National Taiwan University College of Medicine; Institute of Biomedical Sciences (H.-J.K., W.-J.L., J.-P.S., P.-Y.K.), Academia Sinica, Taipei; Department of Neurology (S.-J.H.), National Taiwan University Hospital Yunlin Branch; Institute for Human Genetics (P.-Y.K.), Cardiovascular Research Institute, and Department of Dermatology, University of California, San Francisco; and Department of Medical Genetics (N.-C.L.), National Taiwan University Hospital, Taipei.
Ni-Chung LeeFrom the Department of Neurology (H.W.H., C.-C.C., Y.-N.H., S.-T.H.), Department of Anatomy and Cell Biology (H.W.H., H.-T.S., T.-Y.Y., C.-C.L., S.-T.H.), National Taiwan University College of Medicine; Institute of Biomedical Sciences (H.-J.K., W.-J.L., J.-P.S., P.-Y.K.), Academia Sinica, Taipei; Department of Neurology (S.-J.H.), National Taiwan University Hospital Yunlin Branch; Institute for Human Genetics (P.-Y.K.), Cardiovascular Research Institute, and Department of Dermatology, University of California, San Francisco; and Department of Medical Genetics (N.-C.L.), National Taiwan University Hospital, Taipei.
Sung-Tsang HsiehFrom the Department of Neurology (H.W.H., C.-C.C., Y.-N.H., S.-T.H.), Department of Anatomy and Cell Biology (H.W.H., H.-T.S., T.-Y.Y., C.-C.L., S.-T.H.), National Taiwan University College of Medicine; Institute of Biomedical Sciences (H.-J.K., W.-J.L., J.-P.S., P.-Y.K.), Academia Sinica, Taipei; Department of Neurology (S.-J.H.), National Taiwan University Hospital Yunlin Branch; Institute for Human Genetics (P.-Y.K.), Cardiovascular Research Institute, and Department of Dermatology, University of California, San Francisco; and Department of Medical Genetics (N.-C.L.), National Taiwan University Hospital, Taipei.ORCID https://orcid.org/0000-0002-3188-8482
University of California, San Francisco · US

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background and Objectives: Charcot-Marie-Tooth disease (CMT) is a syndrome of a hereditary neurodegenerative condition affecting the peripheral nervous system and is a single gene disorder. Deep phenotyping coupled with advanced genetic techniques is critical in discovering new genetic defects of rare genetic disorders such as CMT. Methods: We applied multidisciplinary investigations to examine the neurophysiology and nerve pathology in a family that fulfilled the diagnosis of CMT2. When phenotype-guided first-tier genetic tests and whole-exome sequencing did not yield a molecular diagnosis, we conducted full genome analysis by examining phased whole-genome sequencing and whole-genome optical mapping data to search for the causal variation. We then performed a systematic review to compare the reported patients with interstitial microdeletion in the short arm of chromosome 4. Results: In this family with CMT2, we reported the discovery of a heterozygous 85-kb microdeletion in the short arm of chromosome 4 (4p16.3)[NC_000004.12:g.1733926_1819031del] spanning 3 genes [ Discussion: In summary, we used the full genome analysis approach to discover a new microdeletion in a family with CMT2. The deleted segment contains 3 genes (

Identifiers

PMID37346931
PMCPMC10281236
OpenAlexW4380874442

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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.