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Article

Novel mutations affecting the secondary structure of MT-RNR1 gene: a causal relationship with profound nonsyndromic hearing impairment.

Genetic testing and molecular biomarkers - 1 Sept 2012

Padma Gunda, Ramchander Puppala Venkat, Nandur Vijaya Udaya, Kumar Kurapati Ravi, Padma Tirunilai

Abstract excerpt

Mutations in mitochondrial DNA (mtDNA) are one of the most important causes of sensorineural hearing loss, especially in the MT-RNR1 gene. In the present study we have performed mutational screening for m.1555A>G and a region of the MT-RNR1 gene in 303 unrelated patients (including family members of 25 probands) with nonsyndromic hearing loss and 200 controls. Three homoplasmic variants, namely, m.1453A>G,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 22852811
DOI: 10.1089/gtmb.2012.0036

Genes

GJB2
GJB6

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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