Next‐generation Sequencing Facilitates the Diagnosis in a Child With Twinkle Mutations Causing Cholestatic Liver Failure

Goh, Vi Lier; Helbling, Daniel; Biank, Vincent; Jarzembowski, Jason A.; Dimmock, David

doi:10.1097/mpg.0b013e318227e53c

Cited by 42 publications

(47 citation statements)

References 20 publications

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“…Other nuclear gene mutations include MPV17 [14]. Recently recessive mutations in TWINKLE (C10orf2) a mitochondrial replicative helicase have also been discovered as the underlying etiology for Alpers-like phenotype [9,15]. The above mutations can cause tissue specific mitochondrial depletion.…”

Section: Discussionmentioning

confidence: 96%

“…Dominant mutations are known for this gene and can cause progressive external ophthalmoplegia [17][18][19]. Goh et al described Twinkle mutations causing cholestatic liver failure recently [15]. Twinkle mutations (dominant/recessive) are now being reported as the genetic basis for infantile onset sensory ataxia with or without epilepsy, as well as sensory ataxia associated with dysarthria, and hepatocerebral forms of mtDNA depletion disorders in infancy and adulthood [20][21][22].…”

Section: Discussionmentioning

confidence: 97%

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Exome sequencing reveals a homozygous mutation in TWINKLE as the cause of multisystemic failure including renal tubulopathy in three siblings

Prasad

Mélancon

Rupar

et al. 2013

Molecular Genetics and Metabolism

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Section: Discussionmentioning

confidence: 96%

Section: Discussionmentioning

confidence: 97%

Exome sequencing reveals a homozygous mutation in TWINKLE as the cause of multisystemic failure including renal tubulopathy in three siblings

Prasad

Mélancon

Rupar

et al. 2013

Molecular Genetics and Metabolism

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“…WGS-based testing has also been used within research contexts to identify the gene responsible for an unknown syndrome 31 . Within clinical contexts, WGS has been used in combination with pharmacogenomic studies in order to increase the treatment success rate [32][33][34] . Finally, WGS has been used within prevention strategies, in order to identify and to anticipate future health problems 35 36 .…”

Section: Minors and Legally Incompetent Adultsmentioning

confidence: 99%

Return of genetic testing results in the era of whole-genome sequencing

2015

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Genetic testing based on whole-genome sequencing (WGS) often returns results that are not directly clinically actionable as well as raising the possibility of incidental (secondary) findings. In this article, we first survey the laws and policies guiding both researchers and clinicians in the return of results for WGS-based genetic testing. We then provide an overview of the landscape of international legislation and policies for return of these results, including considerations for return of incidental findings. Finally, we consider a range of approaches for the return of results.

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“…WES has been used to identify the cause of a child's severe, intractable inflammatory bowel disease, in which other testing had not enabled the establishment of a diagnosis, allowing successful treatment (6 ). In an infant with acute liver failure, WES allowed improved medical decision-making by identifying mutations causing a recessive disorder, thus leading to counseling the parents that the infant would not be a suitable candidate for liver transplantation (58 ). WGS was used to diagnose congenital chloride diarrhea in a patient with a suspected diagnosis of Bartter syndrome (8 ).…”

Section: Evidence For Efficacymentioning

confidence: 99%

Whole Genome Sequencing as a Diagnostic Test: Challenges and Opportunities

Chrystoja

Diamandis

2014

Clinical Chemistry

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BACKGROUND:Extraordinary technological advances and decreases in the cost of DNA sequencing have made the possibility of whole genome sequencing (WGS) as a highly accessible clinical test for numerous indications feasible. There have been many recent, successful applications of WGS in establishing the etiology of complex diseases and guiding therapeutic decisionmaking in neoplastic and nonneoplastic diseases and in various aspects of reproductive health. However, there are major, but not insurmountable, obstacles to the increased clinical implementation of WGS, such as hidden costs, issues surrounding sequencing and analysis, quality assurance and standardization protocols, ethical dilemmas, and difficulties with interpretation of the results. CONTENT:The widespread use of WGS in routine clinical practice remains a distant proposition. Prospective trials will be needed to establish if, and for whom, the benefits of WGS will outweigh the likely substantial costs associated with follow-up tests, the risks of overdiagnosis and overtreatment, and the associated emotional distress.

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Next‐generation Sequencing Facilitates the Diagnosis in a Child With Twinkle Mutations Causing Cholestatic Liver Failure

Cited by 42 publications

References 20 publications

Exome sequencing reveals a homozygous mutation in TWINKLE as the cause of multisystemic failure including renal tubulopathy in three siblings

Exome sequencing reveals a homozygous mutation in TWINKLE as the cause of multisystemic failure including renal tubulopathy in three siblings

Return of genetic testing results in the era of whole-genome sequencing

Whole Genome Sequencing as a Diagnostic Test: Challenges and Opportunities

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