ArticleAmerican journal of medical genetics. Part A2005
A novel autosomal recessive nonsyndromic hearing impairment locus (DFNB42) maps to chromosome 3q13.31-q22.3.
Article in American journal of medical genetics. Part A, 2005. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers, 1 of them a synthesis that pooled it.
What it found
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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.
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.
Who cites it
9 citing papers in PubMed, 1 synthesis or guideline pooled it, 23 citations in OpenAlex.
- Genome-wide association meta-analysis identifies five novel loci for age-related hearing impairment.Scientific reports · 2019Pooled it
- Targeted Next Generation Sequencing Revealed a Novel HomozygousFrontiers in genetics · 2019Article
- Genetic Hearing Loss and Gene Therapy.Genomics & informatics · 2018Article
- A Novel p.G141R Mutation inNeural plasticity · 2018Article
- Discovering the Unexpected with the Utilization of NGS in Diagnostics of Non-syndromic Hearing Loss Disorders: The Family Case ofFrontiers in genetics · 2017Article
- A Large Genome-Wide Association Study of Age-Related Hearing Impairment Using Electronic Health Records.PLoS genetics · 2016Article
- Two novel mutations in ILDR1 gene cause autosomal recessive nonsyndromic hearing loss in consanguineous Iranian families.Journal of genetics · 2015Article
- Autosomal recessive nonsyndromic deafness genes: a review.Frontiers in bioscience (Landmark edition) · 2012Review
- Loss-of-function mutations of ILDR1 cause autosomal-recessive hearing impairment DFNB42.American journal of human genetics · 2011Article
Corrections and comments
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Authors and funding
10 authors at 2 institutions in 2 countries.
Funding
Abstract
A consanguineous family with autosomal recessive nonsyndromic hearing impairment (NSHI) was ascertained in Pakistan and displayed significant evidence of linkage to 3q13.31-q22.3. The novel locus (DFNB42) segregating in this kindred, maps to a 21.6 cM region according to a genetic map constructed using data from both the deCode and Marshfield genetic maps. This region of homozygosity is flanked by markers D3S1278 and D3S2453. A maximum multipoint LOD score of 3.72 was obtained at marker D3S4523. DFNB42 represents the third autosomal recessive NSHI locus to map to chromosome 3.
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Registered trials
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.