ArticleAmerican journal of human genetics1997
Predisposition to the fragile X syndrome in Jews of Tunisian descent is due to the absence of AGG interruptions on a rare Mediterranean haplotype.
Article in American journal of human genetics, 1997. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
28 citing papers in PubMed, 1 synthesis or guideline pooled it, 65 citations in OpenAlex.
- ACMG Standards and Guidelines for fragile X testing: a revision to the disease-specific supplements to the Standards and Guidelines for Clinical Genetics Laboratories of the American College of Medical Genetics and Genomics.Genetics in medicine : official journal of the American College of Medical Genetics · 2013Guideline
- Base editing of trinucleotide repeats that cause Huntington's disease and Friedreich's ataxia reduces somatic repeat expansions in patient cells and in mice.Nature genetics · 2025Article
- Structural and Dynamical Properties of Nucleic Acid Hairpins Implicated in Trinucleotide Repeat Expansion Diseases.Biomolecules · 2024Review
- Ethnicity has a multiplex impact upon the risk of a full mutation expansion among female heterozygotes for FMR1 premutation.Genetics in medicine : official journal of the American College of Medical Genetics · 2021Article
- Laboratory testing for fragile X, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG).Genetics in medicine : official journal of the American College of Medical Genetics · 2021Article
- Development of Chinese genetic reference panel for Fragile X Syndrome and its application to the screen of 10,000 Chinese pregnant women and women planning pregnancy.Molecular genetics & genomic medicine · 2020Article
- The role of AGG interruptions in the FMR1 gene stability: A survey in ethnic groups with low and high rate of consanguinity.Molecular genetics & genomic medicine · 2019Article
- Genetics and genomic medicine in Tunisia.Molecular genetics & genomic medicine · 2018Article
- Absence of AGG Interruptions Is a Risk Factor for Full Mutation Expansion Among Israeli FMR1 Premutation Carriers.Frontiers in genetics · 2018Article
- Improved Assays for AGG Interruptions in Fragile X Premutation Carriers.The Journal of molecular diagnostics : JMD · 2017Article
- Review
- FMR1 CGG Repeats: Reference Levels and Race-Ethnic Variation in Women With Normal Fertility (Study of Women's Health Across the Nation).Reproductive sciences (Thousand Oaks, Calif.) · 2016Article
- Unique AGG Interruption in the CGG Repeats of the FMR1 Gene Exclusively Found in Asians Linked to a Specific SNP Haplotype.Genetics research international · 2016Article
- Cascade Screening for Fragile X Syndrome/CGG Repeat Expansions in Children Attending Special Education in Sri Lanka.PloS one · 2015Article
- Distribution of AGG interruption patterns within nine world populations.Intractable & rare diseases research · 2014Article
- The role of AGG interruptions in fragile X repeat expansions: a twenty-year perspective.Frontiers in genetics · 2014Review
- The economic burden of fragile x syndrome: healthcare resource utilization in the United States.American health & drug benefits · 2013Article
- Founder mutations in Tunisia: implications for diagnosis in North Africa and Middle East.Orphanet journal of rare diseases · 2012Article
- AGG interruptions within the maternal FMR1 gene reduce the risk of offspring with fragile X syndrome.Genetics in medicine : official journal of the American College of Medical Genetics · 2012Article
- Genetic diversity of the fragile X syndrome gene (FMR1) in a large Sub-Saharan West African population.Annals of human genetics · 2010Article
Corrections and comments
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Authors and funding
8 authors at 4 institutions in 2 countries.
Funding
Abstract
We have studied the ethnic distribution of the fragile X syndrome in Israel and have found that 36/136 (26.5%) of apparently unrelated pedigrees were of Tunisian Jewish descent. The Tunisian Jews, however, constitute only 2%-3% of the general Israeli population, identifying the first ethnic group significantly (P < .001) predisposed to the development of this disease. Associated with this increase in disease prevalence, we have found an unusually high incidence of FMR1 CGG repeats devoid of AGG interruptions among the normal Tunisian Jewish population (30/150, or 20.0%). Furthermore, the proportion of these alleles beyond the FMR1 CGG repeat instability threshold (>35 repeats) (8/150, or 5.3%) was significantly greater (P < .04) than that proportion found among non-Tunisian Jewish controls in Israel (1/136). Haplotype analysis has indicated that these large uninterrupted CGG repeat alleles are present on a previously unreported (DXS548-FRAXAC1-FRAXAC2) haplotype that accounts for all observed cases of disease among Tunisian Jewish X chromosomes. The high prevalence of disease among Tunisian Jews, we suggest, is due to a founder effect of this rare haplotype, which is completely devoid of AGG interruptions in the Jewish population of Tunisia.
Indexed as
Identifiers
8981953PMC1712540W2994402083What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.