{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T14:41:47Z","timestamp":1786977707084,"version":"build-2736575974"},"reference-count":38,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2021,5,28]],"date-time":"2021-05-28T00:00:00Z","timestamp":1622160000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001349","name":"National Medical Research Council","doi-asserted-by":"publisher","award":["NMRC\/1079\/2006"],"award-info":[{"award-number":["NMRC\/1079\/2006"]}],"id":[{"id":"10.13039\/501100001349","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["advanced.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Advanced Genetics"],"published-print":{"date-parts":[[2021,6]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Fragile X syndrome is the most common genetic cause of intellectual disability (ID) and is also well known to have a role in primary ovarian insufficiency (POI) and fragile X\u2010associated tremor ataxia syndrome (FXTAS) that expresses across generations. The objective was to compare the CGG repeat variants in\n                    <jats:italic>FMR1<\/jats:italic>\n                    gene among three correlating cohorts of ID, autism and idiopathic POI. Thirty\u2010six patients with ID, 12 with autism spectrum disorder (ASD) and 13 females with idiopathic POI were screened for\n                    <jats:italic>FMR1<\/jats:italic>\n                    CGG repeat size by fluorescent methylation\u2010specific PCR and GeneScan analysis, irrespective of Hagerman checklist clinical scores. Among 29 males and seven females, 11\n                    <jats:italic>FMR1<\/jats:italic>\n                    allelic variants ranging from 21 to &gt;200 CGG repeats were observed. Three (CF2\u20103, 39\u20105, 44\u20102) out of 29 males had full mutation alleles accounting for a 10.34% incidence of FXS among idiopathic ID males. One of them was a mosaic for CGG repeats with both premutation and full mutation alleles. The frequency of fragile X syndrome is high among patients with idiopathic ID; they also had a high score for the clinical check list. A cascade testing that begins with checklist evaluation prior to DNA analysis will be cost\u2010effective for establishing early diagnosis in South India. With the huge disease burden, there is a need for the establishment of more molecular diagnostics and self\u2010help groups for fragile X syndrome.\n                  <\/jats:p>","DOI":"10.1002\/ggn2.10048","type":"journal-article","created":{"date-parts":[[2021,5,28]],"date-time":"2021-05-28T09:25:47Z","timestamp":1622193947000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["<i>FMR1<\/i>\n                    gene CGG repeat distribution among the three individual cohorts with intellectual disability, autism, and primary ovarian insufficiency from Tamil Nadu, Southern India"],"prefix":"10.1002","volume":"2","author":[{"given":"Indhumathi","family":"Nagarathinam","sequence":"first","affiliation":[{"name":"Department of Genetics, Dr. ALM Post Graduate Institute of Basic Medical Sciences University of Madras  Chennai India"},{"name":"Department of Medical Genetics, Laboratory Services, Apollo Main Hospital  Chennai India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Samuel S.","family":"Chong","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Yong Loo Lin School of Medicine National University of Singapore  Singapore Singapore"},{"name":"Department of Obstetrics and Gynaecology, Yong Loo Lin School of Medicine National University of Singapore  Singapore Singapore"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2154-5443","authenticated-orcid":false,"given":"Thelma","family":"B. K.","sequence":"additional","affiliation":[{"name":"Department of Genetics University of Delhi  New Delhi India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7905-1887","authenticated-orcid":false,"given":"Jeffrey","family":"Justin Margret","sequence":"additional","affiliation":[{"name":"Department of Genetics, Dr. ALM Post Graduate Institute of Basic Medical Sciences University of Madras  Chennai India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Viswanathan","family":"Venkataraman","sequence":"additional","affiliation":[{"name":"Kanchi Kamakoti Childs Trust Hospital  Chennai India"},{"name":"Apollo Children's Hospital  Chennai India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karthikeyen","family":"Natarajan Padmavathy","sequence":"additional","affiliation":[{"name":"DOAST (Doctrine Oriented Art of Symbiotic Treatment) Hearing Care Center and Integrated Therapy Center for Autism  Chennai India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1315-5090","authenticated-orcid":false,"given":"C. 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Srikumari","family":"Srisailapathy","sequence":"additional","affiliation":[{"name":"Department of Genetics, Dr. ALM Post Graduate Institute of Basic Medical Sciences University of Madras  Chennai India"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2021,5,28]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36511"},{"key":"e_1_2_9_3_1","first-page":"99","article-title":"Molecular analysis of fragile X syndrome (FXS) among Malaysian patients with developmental disability","volume":"39","author":"Ali EZ","year":"2017","journal-title":"Malays J 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