A Mayan founder mutation is a common cause of deafness in Guatemala.
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.
Institute for Research on Genetic and Metabolic Diseases, INVEGEM, Guatemala City, Guatemala.
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Carranza
Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA.
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Menendez
Institute for Research on Genetic and Metabolic Diseases, INVEGEM, Guatemala City, Guatemala.
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Herrera
Center for Hearing and Phonetic Training, CEDAF, Guatemala City, Guatemala.
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Castellanos
Institute for Research on Genetic and Metabolic Diseases, INVEGEM, Guatemala City, Guatemala.
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Amado
Therapeutic Center for Hearing and Language, CEAL, Guatemala City, Guatemala.
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Maldonado
Institute for Research on Genetic and Metabolic Diseases, INVEGEM, Guatemala City, Guatemala.
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Rosales
Institute for Research on Genetic and Metabolic Diseases, INVEGEM, Guatemala City, Guatemala.
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Escobar
Institute for Research on Genetic and Metabolic Diseases, INVEGEM, Guatemala City, Guatemala.
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Guerra
Institute for Research on Genetic and Metabolic Diseases, INVEGEM, Guatemala City, Guatemala.
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Alvarez
Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA.
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Foster
Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA.
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Guo
Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA.
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Blanton
Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA.
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Bademci
Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA.
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Tekin
GJB2; Maya; connexin 26; founder effect; hearing loss; mutations