{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,6]],"date-time":"2026-04-06T17:17:15Z","timestamp":1775495835265,"version":"3.50.1"},"reference-count":56,"publisher":"Hindawi Limited","license":[{"start":{"date-parts":[[2016,6,28]],"date-time":"2016-06-28T00:00:00Z","timestamp":1467072000000},"content-version":"unspecified","delay-in-days":179,"URL":"https:\/\/www.cambridge.org\/core\/terms"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genet. Res."],"published-print":{"date-parts":[[2016]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>Fragile X syndrome (FXS) is the most common form of inherited intellectual disability (ID) and co-morbid autism. It is caused by an amplification of the CGG repeat (&gt;200), which is known as the full mutation, within the 5\u2032UTR of the <jats:italic>FMR1<\/jats:italic> gene. Expansions between 55\u2013200 CGG repeats are termed premutation and are associated with a greater risk for fragile X-associated tremor\/ataxia syndrome and fragile X-associated premature ovarian insufficiency. Intermediate alleles, also called the grey zone, include approximately 45\u201354 repeats and are considered borderline. Individuals with less than 45 repeats have a normal <jats:italic>FMR1<\/jats:italic> gene. We report the occurrence of CGG expansions of the <jats:italic>FMR1<\/jats:italic> gene in Chile among patients with ID and families with a known history of FXS. Here, we present a retrospective review conducted on 2321 cases (2202 probands and 119 relatives) referred for FXS diagnosis and cascade screening at the Institute of Nutrition and Food Technology (INTA), University of Chile. Samples were analysed using traditional cytogenetic methods and\/or PCR. Southern blot was used to confirm the diagnosis. Overall frequency of <jats:italic>FMR1<\/jats:italic> expansions observed among probands was 194 (8\u00b78%), the average age of diagnosis was 8\u00b78\u00a0\u00b1\u00a05\u00b74 years. Of 119 family members studied, 72 (60%) were diagnosed with a CGG expansion. Our results indicated that the prevalence of CGG expansions of the <jats:italic>FMR1<\/jats:italic> gene among probands is relatively higher than other populations. The average age of diagnosis is also higher than reference values. PCR and Southern blot represent a reliable molecular technique in the diagnosis of FXS.<\/jats:p>","DOI":"10.1017\/s0016672316000082","type":"journal-article","created":{"date-parts":[[2016,6,28]],"date-time":"2016-06-28T09:07:23Z","timestamp":1467104843000},"source":"Crossref","is-referenced-by-count":10,"title":["<i>FMR1<\/i> gene mutations in patients with fragile X syndrome and obligate carriers: 30 years of experience in Chile"],"prefix":"10.1155","volume":"98","author":[{"given":"LORENA","family":"SANTA MAR\u00cdA","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"SOLANGE","family":"ALIAGA","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"V\u00cdCTOR","family":"FAUNDES","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"PAULINA","family":"MORALES","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"\u00c1NGELA","family":"PUGIN","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"BIANCA","family":"CUROTTO","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"PAULA","family":"SOTO","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M. 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