Evidence map›Paper›PMID 25920691›Full record

ArticleClinica chimica acta; international journal of clinical chemistry2015

Genetic and functional studies reveal a novel noncoding variant in GALT associated with a false positive newborn screening result for galactosemia.

Ying Liu, Alpa Sidhu, Lora H Bean, Robert L Conway, Judith L Fridovich-Keil

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PubMed Full text at PMC Publisher
In one paragraph

Article in Clinica chimica acta; international journal of clinical chemistry, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed, 1 pooled it
–field-weighted citation impact, top 95% 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

1 citing paper in PubMed, 1 synthesis or guideline pooled it, 2 citations in OpenAlex.

  1. Pooled it
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.

Ying LiuDepartment of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322, USA.
Alpa SidhuChildren's Hospital of Michigan Metabolic Clinic, Wayne State University, Detroit, MI 48201, USA.
Lora H BeanDepartment of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322, USA.
Robert L ConwayChildren's Hospital of Michigan Metabolic Clinic, Wayne State University, Detroit, MI 48201, USA.
Judith L Fridovich-KeilDepartment of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322, USA. Electronic address: jfridov@emory.edu.
Emory University · USWayne State University · US

Funding

Studies of Galactose Toxicity in Yeast and Human CellsR01DK059904 · NIDDK · EMORY UNIVERSITY · PI FRIDOVICH-KEIL, JUDITH L. · 2002 to 2011
$3.2M
NIDDK NIH HHS R01 DK059904NIDDK NIH HHS R01DK059904
6 · The paper itself

Abstract

backgroundClassic galactosemia (CG) is a potentially lethal genetic disorder that results from profound loss of galactose-1-phosphate uridylyltransferase (GALT). CG is detected by newborn screening (NBS) in many countries; however, conclusive diagnosis can be complex due to broad and overlapping ranges of GALT activity. Molecular studies can also be complex due to allelic heterogeneity at the GALT locus.

methodsWe conducted both biochemical and molecular follow-up studies for an infant flagged by NBS for possible galactosemia. To clarify the diagnosis we also conducted biochemical and RNA studies of lymphoblasts prepared from the child and one parent.

resultsWe identified a novel noncoding GALT variant, c.377+17C>T, that was homozygous in the child and heterozygous in both parents. The child and both parents also showed diminished GALT activity in red blood cells, and transformed lymphoblasts from the child and one parent further showed diminished GALT activity. However, qRT-PCR studies demonstrated apparently normal GALT mRNA levels in lymphoblasts, and Gal-1P values measured in the child following galactose exposure in infancy and at 1 year were normal.

conclusionsThese results highlight the existence of rare but apparently benign variants in GALT and underscore the need for functional studies to distinguish pathogenic from benign variants.

Indexed as

HomozygoteMutationAdultAsymptomatic DiseasesCells, CulturedConsanguinityFemaleGalactosemiasGalactosephosphatesGene ExpressionGenetic LociGenetic TestingHerpesvirus 4, HumanHeterozygoteHumansInfant, Newborngalactose-1-phosphateGalactosephosphatesUTP-Hexose-1-Phosphate UridylyltransferaseFunctional studiesGalactosemiaNewborn screeningNon-coding variantqRT-PCR

Identifiers

PMID25920691
PMCPMC4449829
OpenAlexW1966471272

What OpenQuestion holds

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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.