A Mayan founder mutation is a common cause of deafness in Guatemala

C. Carranza, I. Menendez, M. Herrera, P. Castellanos, C. Amado, F. Maldonado, L. Rosales, N. Escobar, M. Guerra, D. Alvarez, J. Foster, S. Guo, Susan H Blanton, G. Bademci, Mustafa Tekin

Research output: Contribution to journalArticle

3 Citations (Scopus)

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 languageEnglish (US)
Pages (from-to)461-465
Number of pages5
JournalClinical Genetics
Volume89
Issue number4
DOIs
StatePublished - Apr 1 2016

Fingerprint

Guatemala
Deafness
Mutation
Population
Hearing Loss
North American Indians
Mutation Rate
Haplotypes
Exons
Alleles
Genome

Keywords

  • Connexin 26
  • Founder effect
  • GJB2
  • Hearing loss
  • Maya
  • Mutations

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

Carranza, C., Menendez, I., Herrera, M., Castellanos, P., Amado, C., Maldonado, F., ... Tekin, M. (2016). A Mayan founder mutation is a common cause of deafness in Guatemala. Clinical Genetics, 89(4), 461-465. https://doi.org/10.1111/cge.12676

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 journalArticle

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, SH, Bademci, G & Tekin, M 2016, 'A Mayan founder mutation is a common cause of deafness in Guatemala', Clinical Genetics, vol. 89, no. 4, pp. 461-465. https://doi.org/10.1111/cge.12676
Carranza C, Menendez I, Herrera M, Castellanos P, Amado C, Maldonado F et al. A Mayan founder mutation is a common cause of deafness in Guatemala. Clinical Genetics. 2016 Apr 1;89(4):461-465. https://doi.org/10.1111/cge.12676
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. / A Mayan founder mutation is a common cause of deafness in Guatemala. In: Clinical Genetics. 2016 ; Vol. 89, No. 4. pp. 461-465.
@article{ce736f2757024dd8be197e1839b1d11f,
title = "A Mayan founder mutation is a common cause of deafness in Guatemala",
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.",
keywords = "Connexin 26, Founder effect, GJB2, Hearing loss, Maya, Mutations",
author = "C. Carranza and I. Menendez and M. Herrera and P. Castellanos and C. Amado and F. Maldonado and L. Rosales and N. Escobar and M. Guerra and D. Alvarez and J. Foster and S. Guo and Blanton, {Susan H} and G. Bademci and Mustafa Tekin",
year = "2016",
month = "4",
day = "1",
doi = "10.1111/cge.12676",
language = "English (US)",
volume = "89",
pages = "461--465",
journal = "Clinical Genetics",
issn = "0009-9163",
publisher = "Wiley-Blackwell",
number = "4",

}

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 -