Whole-Exome Sequencing Application for Genetic Diagnosis of Kidney Diseases: A Study from Southwest of Iran

Zamani, Mina; Seifi, Tahereh; Sedighzadeh, Sahar; Negahdari, Samira; Zeighami, Jawaher; Sedaghat, Alireza; Yadegari, Tahereh; Saberi, Alihossein; Hamid, Mohammad; Shariati, Gholamreza; Galehdari, Hamid

doi:10.34067/kid.0006902020

Cited by 2 publications

(1 citation statement)

References 26 publications

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“…In a study with kidney disease patients, pathogenic variants in 68% of patients were identified through wholeexome sequencing. This study demonstrates that whole-exome sequencing holds potential as an emerging diagnostic tool for inherited renal cystic diseases [12].…”

Section: Presentation and Diagnosismentioning

confidence: 75%

The Pathophysiology of Inherited Renal Cystic Diseases

Satariano,

Ghose,

Raina

2024

Genes

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Renal cystic diseases (RCDs) can arise from utero to early adulthood and present with a variety of symptoms including renal, hepatic, and cardiovascular manifestations. It is well known that common RCDs such as autosomal polycystic kidney disease and autosomal recessive kidney disease are linked to genes such as PKD1 and PKHD1, respectively. However, it is important to investigate the genetic pathophysiology of how these gene mutations lead to clinical symptoms and include some of the less-studied RCDs, such as autosomal dominant tubulointerstitial kidney disease, multicystic dysplastic kidney, Zellweger syndrome, calyceal diverticula, and more. We plan to take a thorough look into the genetic involvement and clinical sequalae of a number of RCDs with the goal of helping to guide diagnosis, counseling, and treatment.

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Section: Presentation and Diagnosismentioning

confidence: 75%

The Pathophysiology of Inherited Renal Cystic Diseases

Satariano,

Ghose,

Raina

2024

Genes

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Diagnostic application of exome sequencing in Chinese children with suspected inherited kidney diseases

Min

Dong

et al. 2023

Front. Genet.

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Background: Inherited kidney diseases (IKDs) are a group of kidney diseases characterized by abnormal kidney structure or function caused by genetic factors, but they are not easily diagnosed in childhood due to either nonspecific symptoms and signs or clinically silent symptoms in the early stages until the progressive stages, even end-stages. Early diagnosis of IKDs is very urgent for timely treatment and improving outcomes of patients. So far, the etiological diagnosis has been accelerated with the advance of clinical genetic technology, particularly the advent of next-generation sequencing (NGS) that is not only a powerful tool for prompt and accurate diagnosis of IKDs but also gives therapy guidance to decrease the risk of unnecessary and harmful interventions.Methods: The patients presenting with urinalysis abnormalities or structural abnormalities from 149 Chinese families were enrolled in this study. The clinical features of the patients were collected, and the potentially causative gene variants were detected using exome sequencing. The clinical diagnostic utility of the genetic testing was assessed after more detailed clinical data were analyzed.Result: In total, 55 patients identified having causative variants by exome sequencing were genetically diagnosed, encompassing 16 (29.1%) autosomal dominant IKDs, 16 (29.1%) autosomal recessive IKDs, and 23 (41.8%) X-linked IKDs, with 25 unreported and 45 reported variants. The diagnostic yield was 36.9%. The utility of the exome sequencing was accessed, 12 patients (21.8%) were confirmed to have suspected IKDs, 26 patients (47.3%) discerned the specific sub-types of clinical category, and 17 patients (30.9%) with unknown etiology or lack of typical manifestations were reclassified.Conclusion: Our study supported that genetic testing plays a crucial role in the early diagnosis for children with IKDs, which affected follow-up treatment and prognostic assessment in clinical practice. Moreover, the variant spectrum associated with IKDs was expanded.

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Whole-Exome Sequencing Application for Genetic Diagnosis of Kidney Diseases: A Study from Southwest of Iran

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Cited by 2 publications

References 26 publications

The Pathophysiology of Inherited Renal Cystic Diseases

The Pathophysiology of Inherited Renal Cystic Diseases

Diagnostic application of exome sequencing in Chinese children with suspected inherited kidney diseases

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