Whole Exome Sequencing as a Diagnostic Tool for Unidentified Muscular Dystrophy in a Vietnamese Family.

Ngoc-Lan Nguyen, Can Thi Bich Ngoc, Chi Dung Vu, Thi Thu Huong Nguyen, Huy Hoang Nguyen

Open access · goldAbstract readCase Reports

In one paragraph

Article in Diagnostics (Basel, Switzerland), 2020. 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

0.2field-weighted citation impact, top 49% 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

2 citing papers in PubMed, 2 citations in OpenAlex.

Merosin-deficient congenital muscular dystrophy type 1a: detection ofFrontiers in genetics · 2023
Article
Limb girdle muscular dystrophy 23 caused by compound heterozygous mutations ofFrontiers in pediatrics · 2023
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

5 authors at 2 institutions in 1 country.

Ngoc-Lan NguyenGraduate University of Science and Technology, Vietnam Academy of Science and Technology, 18 Hoang Quoc Viet str., Cau Giay, Hanoi 100000, Vietnam.

Can Thi Bich NgocCenter for Rare Diseases and Newborn Screening, Department of Endocrinology, Metabolism and Genetics, Vietnam National Children's Hospital, 18/879 La Thanh str., Dong Da, Hanoi 100000, Vietnam.

Chi Dung VuCenter for Rare Diseases and Newborn Screening, Department of Endocrinology, Metabolism and Genetics, Vietnam National Children's Hospital, 18/879 La Thanh str., Dong Da, Hanoi 100000, Vietnam.

Thi Thu Huong NguyenGraduate University of Science and Technology, Vietnam Academy of Science and Technology, 18 Hoang Quoc Viet str., Cau Giay, Hanoi 100000, Vietnam.

Huy Hoang NguyenGraduate University of Science and Technology, Vietnam Academy of Science and Technology, 18 Hoang Quoc Viet str., Cau Giay, Hanoi 100000, Vietnam.ORCID 0000-0002-6284-5813

Vietnam Academy of Science and Technology · VNVietnam National Children's Hospital · VN

Funding

Graduate University of Science and Technology, Vietnam Academic of Science and Technology GUST.STS.ĐT2017-SH02

6 · The paper itself

Abstract

Muscular dystrophies are a group of heterogeneous clinical and genetic disorders. Two siblings presented with characteristics like muscular dystrophy, abnormal white matter, and elevated serum creatine kinase level. The high throughput of whole exome sequencing (WES) makes it an efficient tool for obtaining a precise diagnosis without the need for immunohistochemistry. WES was performed in the two siblings and their parents, followed by prioritization of variants and validation by Sanger sequencing. Very rare variants with moderate to high predicted impact in genes associated with neuromuscular disorders were selected. We identified two pathogenic missense variants, c.778C>T (p.H260Y) and c.2987G>A (p.C996Y), in the

Indexed as

Ac.2987G&gtc.778C&gtLAMA2-related muscular dystrophyLAMA2 variantsTVietnameseWES

Identifiers

PMID32987775

DOI10.3390/diagnostics10100741

PMCPMC7598670

OpenAlexW3088138918

What OpenQuestion holds

Textmetadata

LicenceCC BY

Read underepoch 390

Registered trials

None linked

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.