Evidence map›Paper›PMID 26185573›Full record

ReviewThe Pan African medical journal2015

Genetics of hearing loss in Africans: use of next generation sequencing is the best way forward.

Kamogelo Lebeko, Jason Bosch, Jean Jacques Nzeale Noubiap, Collet Dandara, Ambroise Wonkam

Open access · goldAbstract readReview
In one paragraph

Review in The Pan African medical journal, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
23citing papers in PubMed, 1 pooled it
0.9field-weighted citation impact, top 32% of its field
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

23 citing papers in PubMed, 1 synthesis or guideline pooled it, 38 citations in OpenAlex.

  1. Pooled it
  2. Article
  3. Article
  4. Review
  5. Article
  6. Article
  7. Functional consequences of Genetics variant inSaudi journal of biological sciences · 2023
    Article
  8. Article
  9. Article
  10. Article
  11. Review
  12. Article
  13. A novel variant inExperimental biology and medicine (Maywood, N.J.) · 2021
    Article
  14. Article
  15. Review
  16. Article
  17. Article
  18. Review
  19. Article
  20. Genes · 2019
    Article
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

5 authors at 2 institutions in 2 countries.

Kamogelo LebekoDivision of Human Genetics, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa.
Jason BoschDivision of Human Genetics, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa.
Jean Jacques Nzeale NoubiapFaculty of Medicine and Biomedical Sciences, University of Yaoundé I, Yaoundé, Cameroon.
Collet DandaraDivision of Human Genetics, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa ; Institute for Infectious Disease and Molecular Medicine (IDM), Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa.
Ambroise WonkamDivision of Human Genetics, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa.
University of Cape Town · ZAUniversité de Yaoundé I · CM

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Hearing loss is the most common communication disorder affecting about 1-7/1000 births worldwide. The most affected areas are developing countries due to extensively poor health care systems. Environmental causes contribute to 50-70% of cases, specifically meningitis in sub-Saharan Africa. The other 30-50% is attributed to genetic factors. Nonsyndromic hearing loss is the most common form of hearing loss accounting for up to 70% of cases. The most common mode of inheritance is autosomal recessive. The most prevalent mutations associated with autosomal recessive nonsyndromic hearing loss (ARNSHL) are found within connexin genes such as GJB2, mostly in people of European and Asian origin. For example, the c.35delG mutation ofGJB2 is found in 70% of ARNSHL patients of European descent is rare in populations of other ethnicities. Other GJB2 mutations have been reported in various populations. The second most common mutations are found in the connexin gene, GJB6, also with a high prevalence in patients of European descent. To date more than 60 genes have been associated with ARNSHL. We previously showed that mutations in GJB2, GJB6 and GJA1 are not significant causes of ARNSHL inpatients from African descents, i.e. Cameroonians and South Africans In order to resolve ARNSHL amongst sub-Saharan African patients, additional genes would need to be explored. Currently at least 60 genes are thought to play a role in ARNSHL thus the current approach using Sanger sequencing would not be appropriate as it would be expensive and time consuming. Next Generation sequencing (NGS) provides the best alternative approach. In this review, we reported on the success of using NGSas observed in various populations and advocate for the use of NGS to resolve cases of ARNSHL in sub-Saharan African populations.

Indexed as

Africa South of the SaharaBlack PeopleConnexin 26Connexin 30ConnexinsHearing LossHigh-Throughput Nucleotide SequencingHumansMutationConnexin 26Connexin 30ConnexinsGJB2 protein, humanGJB6 protein, humanARNSHLhearing lossnext generation sequencingOTOScope®Sub-Saharan Africatargeted exome sequencingwhole exome sequencing

Identifiers

PMID26185573
PMCPMC4499266
OpenAlexW2055515205

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

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.