Abstract
Over 5% of the world's population has varying degrees of hearing loss. Mutations in GJB2 are the most common cause of autosomal recessive non-syndromic hearing loss (ARNHL) in many populations. The frequency and type of mutations are influenced by ethnicity. Guatemala is a multi-ethnic country with four major populations: Maya, Ladino, Xinca, and Garifuna. To determine the mutation profile of GJB2 in a ARNHL population from Guatemala, we sequenced both exons of GJB2 in 133 unrelated families. A total of six pathogenic variants were detected. The most frequent pathogenic variant is c.131G>A (p.Trp44*) detected in 21 of 266 alleles. We show that c.131G>A is associated with a conserved haplotype in Guatemala suggesting a single founder. The majority of Mayan population lives in the west region of the country from where all c.131G>A carriers originated. Further analysis of genome-wide variation of individuals carrying the c.131G>A mutation compared with those of Native American, European, and African populations shows a close match with the Mayan population.
Original language | English (US) |
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Pages (from-to) | 461-465 |
Number of pages | 5 |
Journal | Clinical Genetics |
Volume | 89 |
Issue number | 4 |
DOIs | |
State | Published - Apr 1 2016 |
Keywords
- Connexin 26
- Founder effect
- GJB2
- Hearing loss
- Maya
- Mutations
ASJC Scopus subject areas
- Genetics
- Genetics(clinical)