Evidence map›Paper›PMID 33280276›Full record

ArticleMolecular genetics & genomic medicine2021

A novel SLC37A4 missense mutation in GSD-Ib without hepatomegaly causes enhanced leukocytes endoplasmic reticulum stress and apoptosis.

Qianyun Xu, Haiyan Tang, Liping Duan, Xiaoxia Zuo, Xiaoliu Shi, Yisha Li, Hongjun Zhao, Huali Zhang

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In one paragraph

Article in Molecular genetics & genomic medicine, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
0.2field-weighted citation impact, top 43% of its field
1 · What the graph read from it

What it found

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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

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3 · Its place in the literature

Who cites it

0 citing papers in PubMed, 2 citations in OpenAlex.

No citing paper in PubMed yet.

4 · The record

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5 · Who and what money

Authors and funding

8 authors at 1 institution in 1 country.

Qianyun XuDepartment of Rheumatology, Xiangya Hospital, Central South University, Changsha, China.ORCID 0000-0003-2134-4243
Haiyan TangDepartment of Medical Genetics, The Second Xiangya Hospital, Central South University, Changsha, China.
Liping DuanDepartment of Rheumatology, Xiangya Hospital, Central South University, Changsha, China.
Xiaoxia ZuoDepartment of Rheumatology, Xiangya Hospital, Central South University, Changsha, China.
Xiaoliu ShiDepartment of Medical Genetics, The Second Xiangya Hospital, Central South University, Changsha, China.
Yisha LiDepartment of Rheumatology, Xiangya Hospital, Central South University, Changsha, China.
Hongjun ZhaoDepartment of Rheumatology, Xiangya Hospital, Central South University, Changsha, China.
Huali ZhangDepartment of Rheumatology, Xiangya Hospital, Central South University, Changsha, China.
Central South University · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundGlycogen storage disease (GSD) type Ib is an autosomal recessive disease caused by defects of glucose-6-phosphate transporter (G6PT), encoded by the SLC37A4 gene. To date, over 100 mutations have been revealed in the SLC37A4 gene. GSD-Ib patients manifest a metabolic phenotype of impaired blood glucose homeostasis and also carry the additional complications of neutropenia and myeloid dysfunction.

methodsHere, we present two daughters with an initial diagnosis of gout in a Chinese consanguineous family. Whole-exome sequencing was performed to identify the mutations. The mechanism of leukocytopenia was investigated.

resultsWhole-exome sequencing analysis of the proband identified a novel homozygous p.P119L mutation in SLC37A4, leading to a diagnosis of GSD-Ib. We found that the potential pathogenic p.P119L mutation leads to an unusual phenotype characterized by gout at onset, and GSD-Ib arising from this variant also manifests multiple metabolic abnormalities, leukocytopenia, and anemia, but no hepatomegaly. The leukocytes from the proband showed increased mRNA levels of sXBP-1, BIP, and CHOP genes in the unfolded protein response pathway, and enhanced Bax mRNA and caspase-3 activity, which might contribute to leukocytopenia.

conclusionOur findings broaden the variation spectrum of SLC37A4 and suggest no strict genotype-phenotype correlations in GSD-Ib patients.

Indexed as

ApoptosisEndoplasmic Reticulum StressAdultAntiportersCells, CulturedFemaleGlycogen Storage Disease Type IGoutHumansLeukocytesLeukopeniaLiverMonosaccharide Transport ProteinsMutation, MissensePedigreeTranscription Factor CHOPAntiportersDDIT3 protein, humanMonosaccharide Transport ProteinsSLC37A4 protein, humanTranscription Factor CHOPX-Box Binding Protein 1XBP1 protein, humanG6PTglycogen storage disease type IbgoutleukocytopeniaSLC37A4

Identifiers

PMID33280276
PMCPMC7963412
OpenAlexW3113342075

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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.