GANAB and PKD1 Variations in a 12 Years Old Female Patient With Early Onset of Autosomal Dominant Polycystic Kidney Disease

Frontiers in Genetics
Elizabeth WaldropTetyana L Vasylyeva

Abstract

Autosomal Dominant Polycystic Kidney Disease (ADPKD) typically results from a mutation in the PKD1 and PKD2 genes, which code for polycystin-1 (PC1) and polycystin-2 (PC2), respectively. Mutations in these genes promote renal cystic dysplasia and are a significant cause of End-Stage Kidney Disease (ESKD). Polycystic kidney disease-3 (PKD3), another form of ADPKD, is caused by mutations in glucosidase II alpha subunit (GANAB) gene and present in mid- and late adulthood. We report a description of an ADPKD case in a 12-year-old female presented bilateral renal cysts in adolescence. Two mutations in two genes PKD1 and GANAB were identified by targeted capture and next-generation sequencing (NGS) on an Illumina sequencing system. The identified PKD1 mutation p.Pro61Leu: c.182C > T (CCC > CTC) a missense type of uncertain clinical significance. However, the identified PKD1 mutation can alter transcription factors motifs and consequently disturb the transcription process. The second mutation identified in GANAB locus, p.Arg61Ter: c.181C > T, a nonsense type, CGA > TGA. The mutation is unreported pathogenic variant can cause loss of the glucosidase II alpha subunit normal protein function. Both the patient father and paternal grandmot...Continue Reading

References

Oct 18, 1990·The New England Journal of Medicine·P S ParfreyS Somlo
Oct 1, 1993·American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation·V E TorresJ W Segura
Aug 23, 2002·Journal of the American Society of Nephrology : JASN·Peter Igarashi, Stefan Somlo
Dec 17, 2002·Proceedings of the National Academy of Sciences of the United States of America·Feng QianGregory G Germino
Aug 21, 2007·Clinical Journal of the American Society of Nephrology : CJASN·Elizabeth DicksPatrick S Parfrey
Jul 22, 2008·American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation·Berenice ReedRobert W Schrier
Feb 4, 2009·Cleveland Clinic Journal of Medicine·William E Braun
Feb 6, 2009·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Filip FenclTomás Seeman
May 21, 2009·Kidney International·Vicente E Torres, Peter C Harris
Oct 29, 2011·Journal of the American Society of Nephrology : JASN·Carsten BergmannKlaus Zerres
May 12, 2012·Computational and Mathematical Methods in Medicine·Zhe ZhangEmil Alexov
Oct 16, 2012·The Journal of Clinical Investigation·Katharina HoppPeter C Harris
Feb 23, 2013·Journal of the American Society of Nephrology : JASN·Emilie Cornec-Le GallYannick Le Meur
May 21, 2013·Journal of the American Society of Nephrology : JASN·Peter C Harris, Katharina Hopp
Dec 18, 2013·Science·Andrew B StergachisJohn A Stamatoyannopoulos
Jan 31, 2015·Current Opinion in Pediatrics·Melissa A Cadnapaphornchai
Jun 9, 2016·Open Access Macedonian Journal of Medical Sciences·Valbona BajramiMyftar Barbullushi
Aug 19, 2016·Nature·Monkol LekUNKNOWN Exome Aggregation Consortium
May 20, 2017·Journal of the American Society of Nephrology : JASN·Ioan-Andrei IliutaYork Pei
Sep 2, 2017·The Journal of Clinical Investigation·Whitney BesseStefan Somlo
Oct 19, 2017·Journal of the American Society of Nephrology : JASN·Emilie Cornec-Le GallPeter C Harris

❮ Previous
Next ❯

Citations

May 31, 2020·IUBMB Life·Mayssa AbdelwahedNeïla Belguith
Mar 8, 2021·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Charlotte GimpelDjalila Mekahli
Jun 27, 2021·Journal of Pediatric Gastroenterology and Nutrition·Rossella ColantuonoClaudia Mandato
Nov 10, 2021·Clinical Science·Anastasia V SudarikovaDaria V Ilatovskaya

❮ Previous
Next ❯

Methods Mentioned

BETA
Illumina sequencing

Software Mentioned

JASPAR

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.

Related Papers

Trends in Molecular Medicine
Matteus KrappitzSorin V Fedeles
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Chaowen YuSizhong Zhang
American Journal of Physiology. Renal Physiology
Jozefina CasuscelliTitus J Boggon
© 2022 Meta ULC. All rights reserved