Limitations of hearing screening in newborns with PDS mutations

Kim, Bo Gyung; Shin, Joong-Wook; Park, Hong-Joon; Kim, Jung Min; Kim, Un-Kyung; Choi, Jae Young

doi:10.1016/j.ijporl.2013.02.023

Cited by 22 publications

(13 citation statements)

References 23 publications

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“…This result is similar to the investigation on newborns with PDS mutations. 23 As to the hereditary HL, the appropriate early intervention service is important to the development of speech and language, especially pre-lingual deafness. We think that it may be wise to implement repetitive screenings at preverbal and preschool ages in children with primary dRTA.…”

Section: Discussionmentioning

confidence: 99%

Mutation analysis and audiologic assessment in six Chinese children with primary distal renal tubular acidosis

Gao

et al. 2014

Renal Failure

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The objective of this study is to identify ATP6V1B1, ATP6V0A4 and SLC4A1 genes mutations and assess audiologic characteristics in six Chinese children with primary distal renal tubular acidosis from four unrelated families between the ages of 2 and 13 years. Both ATP6V0A4 and ATP6V1B1 genes were preferentially screened in all index cases by direct sequence analysis. If inconclusive then SLC4A1 gene should be analyzed for mutation. Their clinical features, hearing status and inner ear imaging structure were also investigated. Six loss-of-function mutations were identified in six patients. Two novel mutations were identified in either of ATP6V0A4 and ATP6V1B1 genes, respectively. Two probands from different kindreds with mutations in ATP6V1B1 presented early onset profound sensorineural hearing loss (SNHL) and enlarged vestibular aqueduct (EVA). Two from different families carrying ATP6V0A4 mutations manifested early onset moderate mixed HL and moderate SNHL, respectively, the former comorbid with EVA, while the latter not; however, both their elder sisters showed normal hearing and inner ear. These findings expand the spectrum of mutations in the ATP6V0A4 and ATP6V1B1 genes associated with primary dRTA. Our study confirms the association of EVA and mutations in either of these two genes. More studies are necessary to clarify the relationship between dRTA, SNHL, EVA, and gene mutations.

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Section: Discussionmentioning

confidence: 99%

Mutation analysis and audiologic assessment in six Chinese children with primary distal renal tubular acidosis

Gao

et al. 2014

Renal Failure

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“…Additionally, individuals with potentially progressive or late-onset hearing impairment might not be identified. Kim et al reported that a substantial portion of subjects with SLC26A4 mutations escape from universal newborn hearing screening [46]. Especially, c.919-2A>G, which is very frequent in Chinese and Taiwanese was reported to have a better residual hearing than p.H723R [47].…”

Section: Nomentioning

confidence: 99%

Government-funded universal newborn hearing screening and genetic analyses of deafness predisposing genes in Taiwan

Chu¹,

Chen²,

Lee³

et al. 2015

International Journal of Pediatric Otorhinolaryngology

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“…These mutation types included 8 SNVs in 6 (24%) patients, nonsense mutations in 5 (20%) patients, short indels in 3 (12%) patients, and gene deletion or duplication in 4 (16%) patients. These results were a surprise to the analysis team who expected most of the causal mutations to be in public databases, as reported in other cases 20 – 22 . In addition, compound heterozygosity was the cause of genetic disorders in 7 of 25 (30%) patients.…”

Section: Resultsmentioning

confidence: 86%

Prevalence of Rare Genetic Variations and Their Implications in NGS-data Interpretation

Cho

Lee

Jeong³

et al. 2017

Sci Rep

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Next-generation sequencing (NGS) technology has improved enough to discover mutations associated with genetic diseases. Our study evaluated the feasibility of targeted NGS as a primary screening tool to detect causal variants and subsequently predict genetic diseases. We performed parallel computations on 3.7-megabase-targeted regions to detect disease-causing mutations in 103 participants consisting of 81 patients and 22 controls. Data analysis of the participants took about 6 hours using local databases and 200 nodes of a supercomputer. All variants in the selected genes led on average to 3.6 putative diseases for each patient while variants restricted to disease-causing genes identified the correct disease. Notably, only 12% of predicted causal variants were recorded as causal mutations in public databases: 88% had no or insufficient records. In this study, most genetic diseases were caused by rare mutations and public records were inadequate. Most rare variants, however, were not associated with genetic diseases. These data implied that novel, rare variants should not be ignored but interpreted in conjunction with additional clinical data. This step is needed so appropriate advice can be given to primary doctors and parents, thus fulfilling the purpose of this method as a primary screen for rare genetic diseases.

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Limitations of hearing screening in newborns with PDS mutations

Cited by 22 publications

References 23 publications

Mutation analysis and audiologic assessment in six Chinese children with primary distal renal tubular acidosis

Mutation analysis and audiologic assessment in six Chinese children with primary distal renal tubular acidosis

Government-funded universal newborn hearing screening and genetic analyses of deafness predisposing genes in Taiwan

Prevalence of Rare Genetic Variations and Their Implications in NGS-data Interpretation

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