Evidence map›Paper›PMID 25991456›Full record

ArticleBMJ open2015

DNA sequence analysis and genotype-phenotype assessment in 71 patients with syndromic hearing loss or auditory neuropathy.

Hsiao-Yuan Tang, Ping Fang, Jerry W Lin, Sandra Darilek, Brooke T Osborne, Jo Ann Haymond, Spiros Manolidis, Benjamin B Roa, John S Oghalai, Raye L Alford

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in BMJ open, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
7citing papers in PubMed, 1 pooled it
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

7 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Pooled it
  2. Review
  3. Article
  4. Article
  5. Article
  6. The SLC26A4 c.706C>G (p.Leu236Val) Variant is a Frequent Cause of Hearing Impairment in Filipino Cochlear Implantees.Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology · 2018
    Article
  7. Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

10 authors.

Hsiao-Yuan TangBobby R Alford Department of Otolaryngology-Head and Neck Surgery, Baylor College of Medicine, Houston, Texas, USA.
Ping FangMedical Genetics Laboratories, Baylor College of Medicine, Houston, Texas, USA Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
Jerry W LinBobby R Alford Department of Otolaryngology-Head and Neck Surgery, Baylor College of Medicine, Houston, Texas, USA.
Sandra DarilekDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
Brooke T OsborneBobby R Alford Department of Otolaryngology-Head and Neck Surgery, Baylor College of Medicine, Houston, Texas, USA.
Jo Ann HaymondBobby R Alford Department of Otolaryngology-Head and Neck Surgery, Baylor College of Medicine, Houston, Texas, USA.
Spiros ManolidisDepartment of Otorhinolaryngology-Head & Neck Surgery, Albert Einstein College of Medicine of Yeshiva University, Bronx, New York, USA.
Benjamin B RoaMyriad Genetic Laboratories, Salt Lake City, Utah, USA.
John S OghalaiDepartment of Otolaryngology-Head and Neck Surgery, Stanford University, Stanford, California, USA.
Raye L AlfordBobby R Alford Department of Otolaryngology-Head and Neck Surgery, Baylor College of Medicine, Houston, Texas, USA.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

objectivesAetiological assessment of 71 probands whose clinical presentation suggested a genetic syndrome or auditory neuropathy.

methodsSanger sequencing was performed on DNA isolated from peripheral blood or lymphoblastoid cell lines. Genes were selected for sequencing based on each patient's clinical presentation and suspected diagnosis. Observed DNA sequence variations were assessed for pathogenicity by review of the scientific literature, and mutation and polymorphism databases, through the use of in silico tools including sorting intolerant from tolerant (SIFT) and polymorphism phenotyping (PolyPhen), and according to the recommendations of the American College of Medical Genetics and Genomics for the interpretation of DNA sequence variations. Novel DNA sequence variations were sought in controls.

resultsDNA sequencing of the coding and near-coding regions of genes relevant to each patient's clinical presentation revealed 37 sequence variations of known or uncertain pathogenicity in 9 genes from 25 patients. 14 novel sequence variations were discovered. Assessment of phenotypes revealed notable findings in 9 patients.

conclusionsDNA sequencing in patients whose clinical presentation suggested a genetic syndrome or auditory neuropathy provided opportunities for aetiological assessment and more precise genetic counselling of patients and families. The failure to identify a genetic aetiology in many patients in this study highlights the extreme heterogeneity of genetic hearing loss, the incompleteness of current knowledge of aetiologies of hearing loss, and the limitations of conventional DNA sequencing strategies that evaluate only coding and near-coding segments of genes.

Indexed as

GenotypeHearingMutationPhenotypePolymorphism, GeneticBase SequenceDNAHearing LossHearing Loss, CentralHumansSequence Analysis, DNASyndromeDNAGENETICSOTOLARYNGOLOGY

Identifiers

PMID25991456
PMCPMC4442153

What OpenQuestion holds

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.