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) |
|---|---|
| Pages (from-to) | 461-465 |
| Number of pages | 5 |
| Journal | Clinical Genetics |
| Volume | 89 |
| Issue number | 4 |
| DOIs | |
| State | Published - Apr 1 2016 |
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Keywords
- Connexin 26
- Founder effect
- GJB2
- Hearing loss
- Maya
- Mutations
ASJC Scopus subject areas
- Genetics(clinical)
- Genetics
Cite this
A Mayan founder mutation is a common cause of deafness in Guatemala. / Carranza, C.; Menendez, I.; Herrera, M.; Castellanos, P.; Amado, C.; Maldonado, F.; Rosales, L.; Escobar, N.; Guerra, M.; Alvarez, D.; Foster, J.; Guo, S.; Blanton, Susan H; Bademci, G.; Tekin, Mustafa.
In: Clinical Genetics, Vol. 89, No. 4, 01.04.2016, p. 461-465.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - A Mayan founder mutation is a common cause of deafness in Guatemala
AU - Carranza, C.
AU - Menendez, I.
AU - Herrera, M.
AU - Castellanos, P.
AU - Amado, C.
AU - Maldonado, F.
AU - Rosales, L.
AU - Escobar, N.
AU - Guerra, M.
AU - Alvarez, D.
AU - Foster, J.
AU - Guo, S.
AU - Blanton, Susan H
AU - Bademci, G.
AU - Tekin, Mustafa
PY - 2016/4/1
Y1 - 2016/4/1
N2 - 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.
AB - 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.
KW - Connexin 26
KW - Founder effect
KW - GJB2
KW - Hearing loss
KW - Maya
KW - Mutations
UR - http://www.scopus.com/inward/record.url?scp=84962010119&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84962010119&partnerID=8YFLogxK
U2 - 10.1111/cge.12676
DO - 10.1111/cge.12676
M3 - Article
AN - SCOPUS:84962010119
VL - 89
SP - 461
EP - 465
JO - Clinical Genetics
JF - Clinical Genetics
SN - 0009-9163
IS - 4
ER -