Evidence map›Paper›PMID 29236290›Full record

ArticleMuscle & nerve2018

An 8-generation family with X-linked Charcot-Marie-Tooth: Confirmation Of the pathogenicity Of a 3' untranslated region mutation in GJB1 and its clinical features.

Dong-Hui Chen, Maxwell Ma, Mena Scavina, Elizabeth Blue, John Wolff, Prasanthi Karna, Michael O Dorschner, Wendy H Raskind, Thomas D Bird

Open access · greenAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Muscle & nerve, 2018. 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
0.4field-weighted citation impact, top 45% 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, 3 citations in OpenAlex.

  1. Review
  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

9 authors at 5 institutions in 1 country.

Dong-Hui ChenDepartment of Neurology, University of Washington, Seattle, Washington, USA.
Maxwell MaDepartment of Neurology, University of Washington, Seattle, Washington, USA.
Mena ScavinaNemours/Alfred I. duPont Hospital for Children, Wilmington, Delaware, USA.
Elizabeth BlueDepartment of Medicine (Medical Genetics), University of Washington, Seattle, Washington, USA.
John WolffDepartment of Medicine (Medical Genetics), University of Washington, Seattle, Washington, USA.
Prasanthi KarnaDepartment of Medicine (Medical Genetics), University of Washington, Seattle, Washington, USA.
Michael O DorschnerCenter for Precision Diagnostics, University of Washington, Seattle, Washington, USA.
Wendy H RaskindDepartment of Medicine (Medical Genetics), University of Washington, Seattle, Washington, USA.
Thomas D BirdDepartment of Neurology, University of Washington, Seattle, Washington, USA.
VA Puget Sound Health Care System · USUniversity of Washington · USUniversity of Washington Medical Center · USAlfred I. duPont Hospital for Children · USPrecision for Medicine (United States) · US

Funding

Intellectual and Developmental Disabilities Research CenterU54HD083091 · NICHD · UNIVERSITY OF WASHINGTON · PI GURALNICK, MICHAEL J · 2014 to 2019
$7.9M
Next Generation gene discovery in neurogeneticsR01NS069719 · NINDS · UNIVERSITY OF WASHINGTON · PI RASKIND, WENDY H · 2010 to 2019
$5.0M
NICHD NIH HHS U54 HD083091NINDS NIH HHS R01 NS069719
6 · The paper itself

Abstract

introductionMutations in gap junction protein beta 1 (GJB1) on the X chromosome represent one of the most common causes of hereditary neuropathy. We assessed manifestations associated with a rare 3' untranslated region mutation (UTR) of GJB1 in a large family with X-linked Charcot-Marie-Tooth disease (CMTX).

methodsClinical, electrophysiological, and molecular genetic analyses were performed on an 8-generation family with CMTX.

resultsThere were 22 affected males and 19 symptomatic females, including an 83-year-old woman followed for 40 years. Electrophysiological studies showed a primarily axonal neuropathy. The c.*15C>T mutation in the GJB1 3' UTR was identified in 4 branches of the family with a log of odds (LOD) of 4.91. This created a BstE II enzyme recognition site that enabled detection by restriction digestion. DISCUSSION: The c.*15C>T mutation in the GJB1 3' UTR segregates with CMTX1 in 8 generations. Penetrance in males and females is essentially complete. A straightforward genetic method to detect this mutation is described. Muscle Nerve 57: 859-862, 2018.

Indexed as

Family Health3' Untranslated RegionsAdolescentAdultCharcot-Marie-Tooth DiseaseChildConnexinsFemaleGap Junction beta-1 ProteinGene Expression ProfilingGenetic TestingGenotypeHumansLongitudinal StudiesMaleMiddle Aged3' Untranslated RegionsConnexinsGap Junction beta-1 ProteinCharcot-Marie-ToothCMTXConnexin-32GJB1NeuropathyX-linked

Identifiers

PMID29236290
PMCPMC5910283
OpenAlexW2774155204

What OpenQuestion holds

Textmetadata
LicenceTDM
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.