scholarly journals Faculty Opinions recommendation of Whole exome sequencing identified ATP6V1C2 as a novel candidate gene for recessive distal renal tubular acidosis.

2019 ◽  
Author(s):  
Detlef Böckenhauer
Keyword(s):  
Candidate Gene ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Renal Tubular Acidosis ◽  
Distal Renal Tubular Acidosis ◽  
Whole Exome ◽  
Renal Tubular

scholarly journals Whole exome sequencing identified ATP6V1C2 as a novel candidate gene for recessive distal renal tubular acidosis

2020 ◽  
Vol 97 (3) ◽  
pp. 567-579 ◽  
Author(s):  
Tilman Jobst-Schwan ◽  
Verena Klämbt ◽  
Maureen Tarsio ◽  
John F. Heneghan ◽  
Amar J. Majmundar ◽  
...  
Keyword(s):  
Candidate Gene ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Renal Tubular Acidosis ◽  
Distal Renal Tubular Acidosis ◽  
Whole Exome ◽  
Renal Tubular

scholarly journals Whole-exome sequencing as a diagnostic tool for distal renal tubular acidosis

2015 ◽  
Vol 91 (6) ◽  
pp. 583-589 ◽  
Author(s):  
Paula Cristina Barros Pereira ◽  
Flávia Medeiros Melo ◽  
Luiz Armando Cunha De Marco ◽  
Eduardo Araújo Oliveira ◽  
Débora Marques Miranda ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Renal Tubular Acidosis ◽  
Diagnostic Tool ◽  
Distal Renal Tubular Acidosis ◽  
Whole Exome ◽  
Renal Tubular

scholarly journals Whole‐exome sequencing as a diagnostic tool for distal renal tubular acidosis

2015 ◽  
Vol 91 (6) ◽  
pp. 583-589 ◽  
Author(s):  
Paula Cristina Barros Pereira ◽  
Flávia Medeiros Melo ◽  
Luiz Armando Cunha De Marco ◽  
Eduardo Araújo Oliveira ◽  
Débora Marques Miranda ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Renal Tubular Acidosis ◽  
Diagnostic Tool ◽  
Distal Renal Tubular Acidosis ◽  
Whole Exome ◽  
Renal Tubular

A family case with germline TSC1 and mtDNA mutations developing bilateral eosinophilic chromophobe renal cell carcinomas without other typical phenotype of tuberous sclerosis

2018 ◽  
Vol 71 (10) ◽  
pp. 936-943 ◽  
Author(s):  
Hiromasa Sakamoto ◽  
Toshinari Yamasaki ◽  
Takayuki Sumiyoshi ◽  
Noriaki Utsunomiya ◽  
Masashi Takeda ◽  
...  
Keyword(s):  
Mitochondrial Dna ◽  
Candidate Gene ◽  
Tuberous Sclerosis ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Renal Cell ◽  
Renal Cell Carcinomas ◽  
Whole Exome ◽  
Family Case ◽  
Gene Alterations

AimWe examined the genetic alterations in a mother and son with multiple eosinophilic chromophobe renal cell carcinomas (chRCCs) showing no other features.MethodsGermline DNA and bilateral renal cell carcinoma DNA were genetically analysed by whole-exome sequencing. Candidate gene alterations in the first patient’s germline were investigated in her child’s germline and the chRCCs.ResultsWe detected several germline gene alterations in the mother. Among the identified alterations, TSC1 and mitochondrial DNA mutations were also confirmed in her son. Regarding somatic alterations in bilateral chRCCs, no common candidate gene alteration was found.ConclusionTo the best of our knowledge, this is the first report of whole-exome sequencing revealing bilateral eosinophilic chRCCs associated with tuberous sclerosis complex in a family case without classical phenotype. These results suggest that germline TSC1 and mitochondrial DNA gene mutations may be involved in the development of chRCCs in some cases.

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