ArticleHearing research2007
3p-- syndrome defines a hearing loss locus in 3p25.3.
Article in Hearing research, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed, 23 citations in OpenAlex.
- Case Report: A Case Report and Literature Review of 3p Deletion Syndrome.Frontiers in pediatrics · 2021Article
- De novo and inherited loss-of-function variants of ATP2B2 are associated with rapidly progressive hearing impairment.Human genetics · 2019Article
- Maintenance of neuronal size gradient in MNTB requires sound-evoked activity.Journal of neurophysiology · 2017Article
- A new Atp2b2 deafwaddler allele, dfw(i5), interacts strongly with Cdh23 and other auditory modifiers.Hearing research · 2013Article
- A rare chromosome 3 imbalance and its clinical implications.Case reports in pediatrics · 2012Article
- A preformed scleral search coil for measuring mouse eye movements.Journal of neuroscience methods · 2010Article
- Genomic imbalances in neonates with birth defects: high detection rates by using chromosomal microarray analysis.Pediatrics · 2008Article
- The novel mouse mutation Oblivion inactivates the PMCA2 pump and causes progressive hearing loss.PLoS genetics · 2008Article
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Authors and funding
6 authors at 4 institutions in 1 country.
Funding
Abstract
Deletions affecting the terminal end of chromosome 3p result in a characteristic set of clinical features termed 3p-- syndrome. Bilateral, sensorineural hearing loss (SNHL) has been found in some but not all cases, suggesting the possibility that it is due to loss of a critical gene in band 3p25. To date, no genetic locus in this region has been shown to cause human hearing loss. However, the ATP2B2 gene is located in 3p25.3, and haploinsufficiency of the mouse homolog results in SNHL with similar severity. We compared auditory test results with fine deletion mapping in seven previously unreported 3p-- syndrome patients and identified a 1.38Mb region in 3p25.3 in which deletions were associated with moderate to severe, bilateral SNHL. This novel hearing loss locus contains 18 genes, including ATP2B2. ATP2B2 encodes the plasma membrane calcium pump PMCA2. We used immunohistochemistry in human cochlear sections to show that PMCA2 is located in the stereocilia of hair cells, suggesting its function in the auditory system is conserved between humans and mice. Although other genes in this region remain candidates, we conclude that haploinsufficiency of ATP2B2 is the most likely cause of SNHL in 3p-- syndrome.
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