Evidence map›Paper›PMID 29091352›Full record

ArticleAmerican journal of medical genetics. Part A2017

Type 2 Gaucher disease in an infant despite a normal maternal glucocerebrosidase gene.

Ermias Hagege, Richard J Grey, Grisel Lopez, Tamanna Roshan Lal, Ellen Sidransky, Nahid Tayebi

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PubMed Full text at PMC Publisher
In one paragraph

Article in American journal of medical genetics. Part A, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
0.3field-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

4 citing papers in PubMed, 5 citations in OpenAlex.

  1. Article
  2. Review
  3. Next-Generation Sequencing Analysis ofFrontiers in genetics · 2021
    Article
  4. 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

6 authors at 1 institution in 1 country.

Ermias HagegeMedical Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, Maryland.
Richard J GreyMedical Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, Maryland.
Grisel LopezMedical Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, Maryland.
Tamanna Roshan LalMedical Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, Maryland.
Ellen SidranskyMedical Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, Maryland.ORCID http://orcid.org/0000-0002-3019-8500
Nahid TayebiMedical Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, Maryland.
National Human Genome Research Institute · US

Funding

Genetic and clinical studies of Gaucher disease and other lysosomal disordersZIAHG200336 · NHGRI · NATIONAL HUMAN GENOME RESEARCH INSTITUTE · PI SIDRANSKY, ELLEN · 2009 to 2025
$45.2M
Postdoctoral Medical Genetics Training GrantT32GM007471 · NIGMS · JOHNS HOPKINS UNIVERSITY · PI TAO WANG · 1985 to 2026
$8.0M
"Genetic and clinical studies of Gaucher disease and other lysosomal disorders"Z01HG200336 · NHGRI · NATIONAL HUMAN GENOME RESEARCH INSTITUTE · PI SIDRANSKY, ELLEN · 2006 to 2008
$4.8M
Intramural NIH HHS Z01 HG200336NIGMS NIH HHS T32 GM007471
6 · The paper itself

Abstract

Gaucher disease (GD) is a recessively inherited autosomal lysosomal storage disease, the most severe of which is type 2, an acute neuronopathic form. We report an affected infant who inherited one mutant allele, Arg257Gln (c.887G>A; p.Arg296Gln) from his father, while the second, Gly202Arg (c.721G>A; p.Gly241Arg) arose by either maternal germline mosaicism or as a de novo mutation. This is the first time mutation Gly202Arg has been reported to be inherited non-traditionally. This report is part of a growing literature suggesting that GD can be inherited via germline or de novo mutations, and emphasizes that it is critical for clinicians to consider such inheritance when making diagnostic decisions or providing genetic counseling.

Indexed as

AllelesGaucher DiseaseGlucosylceramidaseHumansInfant, NewbornMaleMosaicismMutationGlucosylceramidaseGaucher diseasegenetic counselinggermline mosaicismglucocerebrosidaseneuronopathic

Identifiers

PMID29091352
PMCPMC5787391
OpenAlexW2765788455

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.