A mutation in SLC37A4 causes a dominantly inherited congenital disorder of glycosylation characterized by liver dysfunction.
Adult
Antiporters
/ genetics
Child
Child, Preschool
Congenital Disorders of Glycosylation
/ etiology
Endoplasmic Reticulum
/ genetics
Female
Fibroblasts
/ metabolism
Genes, Dominant
Glycosylation
Humans
Infant
Infant, Newborn
Liver Diseases
/ complications
Male
Monosaccharide Transport Proteins
/ genetics
Mutation
Pedigree
Golgi pH
coagulopathy
congenital disordes of glycosylation
exome sequencing
glycosylation
Journal
American journal of human genetics
ISSN: 1537-6605
Titre abrégé: Am J Hum Genet
Pays: United States
ID NLM: 0370475
Informations de publication
Date de publication:
03 06 2021
03 06 2021
Historique:
received:
04
02
2021
accepted:
20
04
2021
pubmed:
9
5
2021
medline:
29
6
2021
entrez:
8
5
2021
Statut:
ppublish
Résumé
SLC37A4 encodes an endoplasmic reticulum (ER)-localized multitransmembrane protein required for transporting glucose-6-phosphate (Glc-6P) into the ER. Once transported into the ER, Glc-6P is subsequently hydrolyzed by tissue-specific phosphatases to glucose and inorganic phosphate during times of glucose depletion. Pathogenic variants in SLC37A4 cause an established recessive disorder known as glycogen storage disorder 1b characterized by liver and kidney dysfunction with neutropenia. We report seven individuals who presented with liver dysfunction multifactorial coagulation deficiency and cardiac issues and were heterozygous for the same variant, c.1267C>T (p.Arg423
Identifiants
pubmed: 33964207
pii: S0002-9297(21)00144-0
doi: 10.1016/j.ajhg.2021.04.013
pmc: PMC8206404
pii:
doi:
Substances chimiques
Antiporters
0
Monosaccharide Transport Proteins
0
SLC37A4 protein, human
0
Types de publication
Case Reports
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
1040-1052Subventions
Organisme : NCI NIH HHS
ID : P30 CA030199
Pays : United States
Organisme : NIDDK NIH HHS
ID : R01 DK099551
Pays : United States
Informations de copyright
Copyright © 2021 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.
Références
Trends Plant Sci. 2014 Aug;19(8):508-15
pubmed: 24794130
Nat Genet. 2003 Aug;34(4):434-9
pubmed: 12858176
Hum Mol Genet. 2009 Sep 1;18(17):3244-56
pubmed: 19494034
J Biol Chem. 2000 Nov 3;275(44):34280-6
pubmed: 10940311
Clin Chem. 2004 Jan;50(1):101-11
pubmed: 14633925
J Exp Med. 2017 Dec 4;214(12):3707-3729
pubmed: 29127204
Curr Top Membr. 2014;73:357-82
pubmed: 24745989
J Proteome Res. 2016 Sep 2;15(9):2969-80
pubmed: 27432553
Proteomics Clin Appl. 2015 Aug;9(7-8):787-93
pubmed: 25641685
Endocrinology. 2005 Jun;146(6):2539-43
pubmed: 15774558
Cell Rep. 2019 Mar 5;26(10):2566-2579.e10
pubmed: 30840882
Dev Cell. 2012 Dec 11;23(6):1255-62
pubmed: 23177648
Blood. 2020 Aug 27;136(9):1033-1043
pubmed: 32294159
Am J Hum Genet. 2018 Oct 4;103(4):553-567
pubmed: 30290151
JIMD Rep. 2021 Jan 06;58(1):122-128
pubmed: 33728255
Hepatology. 2010 Jan;51(1):297-305
pubmed: 19998274
Clin Chem. 2001 Mar;47(3):513-8
pubmed: 11238305
Am J Hum Genet. 2017 Feb 2;100(2):216-227
pubmed: 28065471
J Biol Chem. 2009 Aug 7;284(32):21684-95
pubmed: 19465480
Cancer Discov. 2020 Jun;10(6):822-835
pubmed: 32200349
Am J Hum Genet. 2017 Nov 2;101(5):664-685
pubmed: 29100083
Nat Commun. 2016 May 27;7:11600
pubmed: 27231034
Am J Hum Genet. 1995 Oct;57(4):766-71
pubmed: 7573034
Hum Mol Genet. 2019 Feb 15;28(4):598-614
pubmed: 30335141
J Inherit Metab Dis. 2016 Jan;39(1):107-14
pubmed: 26335155
Am J Hum Genet. 2013 Jun 6;92(6):895-903
pubmed: 23684010
Electrophoresis. 2018 Dec;39(24):3123-3132
pubmed: 29869806
Glycobiology. 2018 May 1;28(5):276-283
pubmed: 29452367
Front Chem. 2018 Jul 26;6:324
pubmed: 30094234
Nat Cell Biol. 2001 Oct;3(10):905-12
pubmed: 11584272
Mol Genet Metab Rep. 2020 Aug 21;25:100636
pubmed: 32884905
J Inherit Metab Dis. 2018 May;41(3):541-553
pubmed: 29654385
Nat Commun. 2020 Jun 2;11(1):2758
pubmed: 32488069
Nat Rev Endocrinol. 2010 Dec;6(12):676-88
pubmed: 20975743
Am J Hum Genet. 2014 Feb 6;94(2):161-75
pubmed: 24507773
Proc Natl Acad Sci U S A. 2019 Jan 22;116(4):1241-1250
pubmed: 30626647
Am J Hum Genet. 1998 Oct;63(4):976-83
pubmed: 9758626
Mol Genet Metab. 2019 Jan;126(1):1-5
pubmed: 30454869
Lancet. 1987 May 9;1(8541):1059-62
pubmed: 2883397
J Biol Chem. 1999 Feb 26;274(9):5532-6
pubmed: 10026167
Am J Med Genet A. 2010 Oct;152A(10):2609-11
pubmed: 20799326
N Engl J Med. 2009 Jan 1;360(1):32-43
pubmed: 19118303
Int Immunopharmacol. 2017 Mar;44:216-225
pubmed: 28126686
Nat Genet. 2008 Jan;40(1):32-4
pubmed: 18157129
J Biol Chem. 2009 Jan 23;284(4):2482-92
pubmed: 19011241