Novel LAGE3 Pathogenic Variants Combined with TRPC6 and NUP160 Variants in Galloway-Mowat Syndrome: A Case Report
Galloway-Mowat syndrome (GAMOS) is a rare autosomal recessive disorder characterized by early-onset nephrotic syndrome and microcephaly with brain anomalies in children. Researchers studying GAMOS reported the first pathogenic variant identified was the WDR73 gene, and more recently, four new pathogenic genes, OSGEP, LAGE3, TP53RK, and TPRKB, have been identified. In the present study, we report a new mutation of c.290T>G (p.L97R) LAGE3 in a 4-year-old boy with specific urological and nephrological complications. The patient presented with early-onset proteinuria, brain atrophy, delayed language and motor development, and axial hypotonia. This patient also had mutations in two other genes: TRPC6 and NUP160, make the clinical presentation of this patient more diverse. Our novel findings add to the spectrum of pathogenic variants in the LAGE3 gene. In addition, early genetic diagnosis of GAMOS is essential for genetic counseling and prenatal care.
- Standort
-
Deutsche Nationalbibliothek Frankfurt am Main
- Umfang
-
Online-Ressource
- Sprache
-
Englisch
- Erschienen in
-
Novel LAGE3 Pathogenic Variants Combined with TRPC6 and NUP160 Variants in Galloway-Mowat Syndrome: A Case Report ; volume:13 ; number:1 ; year:2023 ; pages:148-155 ; extent:8
Case reports in nephrology and dialysis ; 13, Heft 1 (2023), 148-155 (gesamt 8)
- Urheber
-
Huang, Limin
Zhang, Xiaojing
Zhang, Yingying
Wang, Yanfei
Mao, Jianhua
- DOI
-
10.1159/000533580
- URN
-
urn:nbn:de:101:1-2023122723243860640905
- Rechteinformation
-
Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Letzte Aktualisierung
-
15.08.2025, 07:30 MESZ
Datenpartner
Dieses Objekt wird bereitgestellt von:
Deutsche Nationalbibliothek. Bei Fragen zum Objekt wenden Sie sich bitte an den Datenpartner.
Deutsche Nationalbibliothek. Bei Fragen zum Objekt wenden Sie sich bitte an den Datenpartner.
Beteiligte
- Huang, Limin
- Zhang, Xiaojing
- Zhang, Yingying
- Wang, Yanfei
- Mao, Jianhua
Ähnliche Objekte (12)
High resolution DNA methylation analysis of gene promoters in human chromosome 21
Implementing information container to link multi-models for semantic digital twins
RIP3 is an upregulator of aerobic metabolism and the enhanced respiration by necrosomal RIP3 feeds back on necrosome to promote necroptosis
Microglial responses to peripheral type 1 interferon
A cell model for evaluating mitochondrial damage in cardiomyocytes
3D printing combined with anteroposterior cannulated screws for the treatment of posterolateral tibial plateau fracture
A state-of-the-art fund performance index: Higher-order omega and its consistency with almost stochastic dominance
Serum calcium and mortality in pediatric pneumonia patients admitted to the PICU: a retrospective cohort study
Determination of europium by using the chemical oscillating system of Ce (IV)-KBrO3-acetone-oxalic acid-H2SO4
Diversity of the Bosmina (Cladocera: Bosminidae) in China, revealed by analysis of two genetic markers (mtDNA 16S and a nuclear ITS)
BISMA - Fast and accurate bisulfite sequencing data analysis of individual clones from unique and repetitive sequences
Electrospun silk for biomedical applications
High resolution DNA methylation analysis of gene promoters in human chromosome 21
Implementing information container to link multi-models for semantic digital twins
RIP3 is an upregulator of aerobic metabolism and the enhanced respiration by necrosomal RIP3 feeds back on necrosome to promote necroptosis
Microglial responses to peripheral type 1 interferon
A cell model for evaluating mitochondrial damage in cardiomyocytes
3D printing combined with anteroposterior cannulated screws for the treatment of posterolateral tibial plateau fracture
A state-of-the-art fund performance index: Higher-order omega and its consistency with almost stochastic dominance
Serum calcium and mortality in pediatric pneumonia patients admitted to the PICU: a retrospective cohort study
Determination of europium by using the chemical oscillating system of Ce (IV)-KBrO3-acetone-oxalic acid-H2SO4
Diversity of the Bosmina (Cladocera: Bosminidae) in China, revealed by analysis of two genetic markers (mtDNA 16S and a nuclear ITS)
BISMA - Fast and accurate bisulfite sequencing data analysis of individual clones from unique and repetitive sequences
Electrospun silk for biomedical applications
High resolution DNA methylation analysis of gene promoters in human chromosome 21
Implementing information container to link multi-models for semantic digital twins
RIP3 is an upregulator of aerobic metabolism and the enhanced respiration by necrosomal RIP3 feeds back on necrosome to promote necroptosis
Microglial responses to peripheral type 1 interferon
A cell model for evaluating mitochondrial damage in cardiomyocytes
3D printing combined with anteroposterior cannulated screws for the treatment of posterolateral tibial plateau fracture
A state-of-the-art fund performance index: Higher-order omega and its consistency with almost stochastic dominance
Serum calcium and mortality in pediatric pneumonia patients admitted to the PICU: a retrospective cohort study
Determination of europium by using the chemical oscillating system of Ce (IV)-KBrO3-acetone-oxalic acid-H2SO4
Diversity of the Bosmina (Cladocera: Bosminidae) in China, revealed by analysis of two genetic markers (mtDNA 16S and a nuclear ITS)
BISMA - Fast and accurate bisulfite sequencing data analysis of individual clones from unique and repetitive sequences