{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T03:41:13Z","timestamp":1791862873673,"version":"4.3.4"},"reference-count":20,"publisher":"BMJ","issue":"10","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"accepted":{"date-parts":[[1999,6,16]]},"published-print":{"date-parts":[[1999,10,1]]},"abstract":"<jats:p>Genetic causes of premature ovarian failure (POF) include X chromosome deletions and fragile X (FRAXA) premutations. While screening a cohort of women with POF for FRAXA premutations, a more distal trinucleotide repeat, FRAXE, was also tested. We found an unexpected excess of FRAXE alleles with apparently fewer than 11 repeats in the POF group. However, sequence analysis of these alleles showed that the excess was caused by three females who carry cryptic deletions in <jats:italic>FMR2<\/jats:italic>, the gene associated with FRAXE. We propose that microdeletions within<jats:italic>FMR2<\/jats:italic> may be a significant cause of premature ovarian failure, being found in 1.5% of women with the condition, and in only 0.04% of the general female population. The deletions may affect transcription of either <jats:italic>FMR2<\/jats:italic> or an adjacent gene.<\/jats:p>","DOI":"10.1136\/jmg.36.10.767","type":"journal-article","created":{"date-parts":[[2013,2,15]],"date-time":"2013-02-15T13:28:56Z","timestamp":1360934936000},"page":"767-770","source":"Crossref","is-referenced-by-count":58,"title":["Microdeletions in <i>FMR2<\/i> may be a significant cause of premature ovarian failure"],"prefix":"10.1136","volume":"36","author":[{"given":"Anna","family":"Murray","sequence":"first","affiliation":[{"name":"aWessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, Wiltshire SP2 8BJ, UK, \n\nbHuman Genetics, Princess Anne Hospital, Coxford Road, Southampton SO16 5YA, UK, \n\ncCobbold Laboratories, Middlesex Hospital, Mortimer Street, London, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James","family":"Webb","sequence":"additional","affiliation":[{"name":"aWessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, Wiltshire SP2 8BJ, UK, \n\nbHuman Genetics, Princess Anne Hospital, Coxford Road, Southampton SO16 5YA, UK, \n\ncCobbold Laboratories, Middlesex Hospital, Mortimer Street, London, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nick","family":"Dennis","sequence":"additional","affiliation":[{"name":"aWessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, Wiltshire SP2 8BJ, UK, \n\nbHuman Genetics, Princess Anne Hospital, Coxford Road, Southampton SO16 5YA, UK, \n\ncCobbold Laboratories, Middlesex Hospital, Mortimer Street, London, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gerard","family":"Conway","sequence":"additional","affiliation":[{"name":"aWessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, Wiltshire SP2 8BJ, UK, \n\nbHuman Genetics, Princess Anne Hospital, Coxford Road, Southampton SO16 5YA, UK, \n\ncCobbold Laboratories, Middlesex Hospital, Mortimer Street, London, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Newton","family":"Morton","sequence":"additional","affiliation":[{"name":"aWessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, Wiltshire SP2 8BJ, UK, \n\nbHuman Genetics, Princess Anne Hospital, Coxford Road, Southampton SO16 5YA, UK, \n\ncCobbold Laboratories, Middlesex Hospital, Mortimer Street, London, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[1999,10,1]]},"reference":[{"key":"2025100511324456000_36.10.767.1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(93)90300-F"},{"key":"2025100511324456000_36.10.767.2","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19960809)64:2<415::AID-AJMG36>3.0.CO;2-G"},{"key":"2025100511324456000_36.10.767.3","first-page":"923","article-title":"Segregation of FRAXE in a large family: clinical, psychometric, cytogenetic, and molecular data.","volume":"55","author":"Hamel","year":"1994","journal-title":"Am J Hum Genet"},{"key":"2025100511324456000_36.10.767.4","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.32.3.162"},{"key":"2025100511324456000_36.10.767.5","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.34.1.13"},{"key":"2025100511324456000_36.10.767.6","doi-asserted-by":"publisher","DOI":"10.1038\/ng0596-105"},{"key":"2025100511324456000_36.10.767.7","doi-asserted-by":"publisher","DOI":"10.1038\/ng0596-109"},{"key":"2025100511324456000_36.10.767.8","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1997.4867"},{"key":"2025100511324456000_36.10.767.9","first-page":"907","article-title":"Overlapping submicroscopic deletions in Xq28 in two unrelated boys with developmental disorders: identification of a gene near FRAXE.","volume":"56","author":"Gedeon","year":"1995","journal-title":"Am J Hum Genet"},{"key":"2025100511324456000_36.10.767.10","unstructured":"Macpherson J Murray A Jacobs PA (1995) FRAXE microdeletions in two interesting families. 7th International Workshop on Fragile X and X-linked Mental Retardation, :abstract 65."},{"key":"2025100511324456000_36.10.767.11","unstructured":"Zhong N Yang W Houck GE (1995) Identification of FRAXE mutations: a FRAXE microdeletion associated with a complex mosaic FRAXA mutation. 7th International Workshop on Fragile X and X-linked Mental Retardation, :abstract 62."},{"key":"2025100511324456000_36.10.767.12","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19960809)64:2<420::AID-AJMG37>3.0.CO;2-F"},{"key":"2025100511324456000_36.10.767.13","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19971231)73:4<447::AID-AJMG14>3.0.CO;2-R"},{"key":"2025100511324456000_36.10.767.14","first-page":"604","article-title":"Incidence of premature ovarian failure.","volume":"67","author":"Coulam","year":"1986","journal-title":"Obstet 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