Distribution of AGG interruption patterns within nine world populations

Carolyn M. Yrigollen, Stefan Sweha, Blythe Durbin-Johnson, Lili Zhou, Elizabeth Berry-Kravis, Isabel Fernandez-Carvajal, Sultana M.H. Faradz, Khaled Amiri, Huda Shaheen, Roberta Polli, Luis Murillo-Bonilla, Gabriel de Jesus Silva Arevalo, Patricia Cogram, Alessandra Murgia, Flora Tassone

Research output: Contribution to journalArticle

11 Citations (Scopus)

Abstract

The CGG trinucleotide repeat within the FMR1 gene is associated with multiple clinical disorders, including fragile X-associated tremor/ataxia syndrome, fragile X-associated primary ovarian insufficiency, and fragile X syndrome. Differences in the distribution and prevalence of CGG repeat length and of AGG interruption patterns have been reported among different populations and ethnicities. In this study we characterized the AGG interruption patterns within 3,065 normal CGG repeat alleles from nine world populations including Australia, Chile, United Arab Emirates, Guatemala, Indonesia, Italy, Mexico, Spain, and United States. Additionally, we compared these populations with those previously reported, and summarized the similarities and differences. We observed significant differences in AGG interruption patterns. Frequencies of longer alleles, longer uninterrupted CGG repeat segments and alleles with greater than 2 AGG interruptions varied between cohorts. The prevalence of fragile X syndrome and FMR1 associated disorders in various populations is thought to be affected by the total length of the CGG repeat and may also be influenced by the AGG distribution pattern. Thus, the results of this study may be important in considering the risk of fragile X-related conditions in various populations.

Original languageEnglish (US)
Pages (from-to)153-161
Number of pages9
JournalIntractable and Rare Diseases Research
Volume3
Issue number4
DOIs
StatePublished - Jan 1 2014

Fingerprint

Fragile X Syndrome
Population
Alleles
United Arab Emirates
Guatemala
Primary Ovarian Insufficiency
Trinucleotide Repeats
Indonesia
Chile
Mexico
Gene Frequency
Spain
Italy
Genes
Fragile X Tremor Ataxia Syndrome
Fragile X-Associated Primary Ovarian Insufficiency

Keywords

  • AGG interruptions
  • CGG repeat
  • Ethnicity
  • Expansion
  • FMR1 allele

ASJC Scopus subject areas

  • Medicine(all)

Cite this

Yrigollen, C. M., Sweha, S., Durbin-Johnson, B., Zhou, L., Berry-Kravis, E., Fernandez-Carvajal, I., ... Tassone, F. (2014). Distribution of AGG interruption patterns within nine world populations. Intractable and Rare Diseases Research, 3(4), 153-161. https://doi.org/10.5582/irdr.2014.01028

Distribution of AGG interruption patterns within nine world populations. / Yrigollen, Carolyn M.; Sweha, Stefan; Durbin-Johnson, Blythe; Zhou, Lili; Berry-Kravis, Elizabeth; Fernandez-Carvajal, Isabel; Faradz, Sultana M.H.; Amiri, Khaled; Shaheen, Huda; Polli, Roberta; Murillo-Bonilla, Luis; Arevalo, Gabriel de Jesus Silva; Cogram, Patricia; Murgia, Alessandra; Tassone, Flora.

In: Intractable and Rare Diseases Research, Vol. 3, No. 4, 01.01.2014, p. 153-161.

Research output: Contribution to journalArticle

Yrigollen, CM, Sweha, S, Durbin-Johnson, B, Zhou, L, Berry-Kravis, E, Fernandez-Carvajal, I, Faradz, SMH, Amiri, K, Shaheen, H, Polli, R, Murillo-Bonilla, L, Arevalo, GDJS, Cogram, P, Murgia, A & Tassone, F 2014, 'Distribution of AGG interruption patterns within nine world populations', Intractable and Rare Diseases Research, vol. 3, no. 4, pp. 153-161. https://doi.org/10.5582/irdr.2014.01028
Yrigollen CM, Sweha S, Durbin-Johnson B, Zhou L, Berry-Kravis E, Fernandez-Carvajal I et al. Distribution of AGG interruption patterns within nine world populations. Intractable and Rare Diseases Research. 2014 Jan 1;3(4):153-161. https://doi.org/10.5582/irdr.2014.01028
Yrigollen, Carolyn M. ; Sweha, Stefan ; Durbin-Johnson, Blythe ; Zhou, Lili ; Berry-Kravis, Elizabeth ; Fernandez-Carvajal, Isabel ; Faradz, Sultana M.H. ; Amiri, Khaled ; Shaheen, Huda ; Polli, Roberta ; Murillo-Bonilla, Luis ; Arevalo, Gabriel de Jesus Silva ; Cogram, Patricia ; Murgia, Alessandra ; Tassone, Flora. / Distribution of AGG interruption patterns within nine world populations. In: Intractable and Rare Diseases Research. 2014 ; Vol. 3, No. 4. pp. 153-161.
@article{eb9857ac5ef24b72bfbb48e5e7a8166c,
title = "Distribution of AGG interruption patterns within nine world populations",
abstract = "The CGG trinucleotide repeat within the FMR1 gene is associated with multiple clinical disorders, including fragile X-associated tremor/ataxia syndrome, fragile X-associated primary ovarian insufficiency, and fragile X syndrome. Differences in the distribution and prevalence of CGG repeat length and of AGG interruption patterns have been reported among different populations and ethnicities. In this study we characterized the AGG interruption patterns within 3,065 normal CGG repeat alleles from nine world populations including Australia, Chile, United Arab Emirates, Guatemala, Indonesia, Italy, Mexico, Spain, and United States. Additionally, we compared these populations with those previously reported, and summarized the similarities and differences. We observed significant differences in AGG interruption patterns. Frequencies of longer alleles, longer uninterrupted CGG repeat segments and alleles with greater than 2 AGG interruptions varied between cohorts. The prevalence of fragile X syndrome and FMR1 associated disorders in various populations is thought to be affected by the total length of the CGG repeat and may also be influenced by the AGG distribution pattern. Thus, the results of this study may be important in considering the risk of fragile X-related conditions in various populations.",
keywords = "AGG interruptions, CGG repeat, Ethnicity, Expansion, FMR1 allele",
author = "Yrigollen, {Carolyn M.} and Stefan Sweha and Blythe Durbin-Johnson and Lili Zhou and Elizabeth Berry-Kravis and Isabel Fernandez-Carvajal and Faradz, {Sultana M.H.} and Khaled Amiri and Huda Shaheen and Roberta Polli and Luis Murillo-Bonilla and Arevalo, {Gabriel de Jesus Silva} and Patricia Cogram and Alessandra Murgia and Flora Tassone",
year = "2014",
month = "1",
day = "1",
doi = "10.5582/irdr.2014.01028",
language = "English (US)",
volume = "3",
pages = "153--161",
journal = "Intractable and Rare Diseases Research",
issn = "2186-3644",
publisher = "International Advancement Center for Medicine & Health Research Co., Ltd. (IACMHR Co., Ltd.)",
number = "4",

}

TY - JOUR

T1 - Distribution of AGG interruption patterns within nine world populations

AU - Yrigollen, Carolyn M.

AU - Sweha, Stefan

AU - Durbin-Johnson, Blythe

AU - Zhou, Lili

AU - Berry-Kravis, Elizabeth

AU - Fernandez-Carvajal, Isabel

AU - Faradz, Sultana M.H.

AU - Amiri, Khaled

AU - Shaheen, Huda

AU - Polli, Roberta

AU - Murillo-Bonilla, Luis

AU - Arevalo, Gabriel de Jesus Silva

AU - Cogram, Patricia

AU - Murgia, Alessandra

AU - Tassone, Flora

PY - 2014/1/1

Y1 - 2014/1/1

N2 - The CGG trinucleotide repeat within the FMR1 gene is associated with multiple clinical disorders, including fragile X-associated tremor/ataxia syndrome, fragile X-associated primary ovarian insufficiency, and fragile X syndrome. Differences in the distribution and prevalence of CGG repeat length and of AGG interruption patterns have been reported among different populations and ethnicities. In this study we characterized the AGG interruption patterns within 3,065 normal CGG repeat alleles from nine world populations including Australia, Chile, United Arab Emirates, Guatemala, Indonesia, Italy, Mexico, Spain, and United States. Additionally, we compared these populations with those previously reported, and summarized the similarities and differences. We observed significant differences in AGG interruption patterns. Frequencies of longer alleles, longer uninterrupted CGG repeat segments and alleles with greater than 2 AGG interruptions varied between cohorts. The prevalence of fragile X syndrome and FMR1 associated disorders in various populations is thought to be affected by the total length of the CGG repeat and may also be influenced by the AGG distribution pattern. Thus, the results of this study may be important in considering the risk of fragile X-related conditions in various populations.

AB - The CGG trinucleotide repeat within the FMR1 gene is associated with multiple clinical disorders, including fragile X-associated tremor/ataxia syndrome, fragile X-associated primary ovarian insufficiency, and fragile X syndrome. Differences in the distribution and prevalence of CGG repeat length and of AGG interruption patterns have been reported among different populations and ethnicities. In this study we characterized the AGG interruption patterns within 3,065 normal CGG repeat alleles from nine world populations including Australia, Chile, United Arab Emirates, Guatemala, Indonesia, Italy, Mexico, Spain, and United States. Additionally, we compared these populations with those previously reported, and summarized the similarities and differences. We observed significant differences in AGG interruption patterns. Frequencies of longer alleles, longer uninterrupted CGG repeat segments and alleles with greater than 2 AGG interruptions varied between cohorts. The prevalence of fragile X syndrome and FMR1 associated disorders in various populations is thought to be affected by the total length of the CGG repeat and may also be influenced by the AGG distribution pattern. Thus, the results of this study may be important in considering the risk of fragile X-related conditions in various populations.

KW - AGG interruptions

KW - CGG repeat

KW - Ethnicity

KW - Expansion

KW - FMR1 allele

UR - http://www.scopus.com/inward/record.url?scp=84981295613&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84981295613&partnerID=8YFLogxK

U2 - 10.5582/irdr.2014.01028

DO - 10.5582/irdr.2014.01028

M3 - Article

AN - SCOPUS:84981295613

VL - 3

SP - 153

EP - 161

JO - Intractable and Rare Diseases Research

JF - Intractable and Rare Diseases Research

SN - 2186-3644

IS - 4

ER -