{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,24]],"date-time":"2026-06-24T23:27:49Z","timestamp":1782343669058,"version":"3.54.5"},"reference-count":15,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2018,12,18]],"date-time":"2018-12-18T00:00:00Z","timestamp":1545091200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81801431"],"award-info":[{"award-number":["81801431"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2019,3]]},"abstract":"<jats:p>Premature ovarian insufficiency (POI) is a group of heterogeneous disorders characterized by decreased ovarian reserve and increased follicle stimulating hormone (FSH) levels. It is rarely associated with short stature. <jats:italic>FIGLA<\/jats:italic> mutations with POI are identified with regard to heterozygosity; till date, only one affected family has been identified with homozygous mutations in <jats:italic>FIGLA<\/jats:italic> but without functional evaluation. Here, we described two POI patients from a consanguineous family from China. An 18\u2010year\u2010old girl and her sister presented with primary amenorrhea and increased FSH and luteinizing hormone levels, but the sister also presented with short stature and bone age delay. Whole\u2010genome sequencing analysis identified a recurrent homozygous mutation in the <jats:italic>FIGLA<\/jats:italic> gene, c.2 T\u2009&gt;\u2009C (p.Met1Thr), in this family member with POI; this variant was segregated within the pedigree. This change was absent in 382 control subjects, and we did not detect any mutations in 39 other idiopathic POI patients. in vitro functional analysis indicates that the p.Met1Thr mutation does not affect the transcription of the <jats:italic>FIGLA<\/jats:italic> gene, but blocks the synthesis of the full\u2010length FIGLA protein. Our results support the notion that bi\u2010allelic recessive loss\u2010of\u2010function effects of FIGLA contribute to POI patients with short stature and expand the <jats:italic>FIGLA<\/jats:italic>\u2010related phenotypic spectrum.<\/jats:p>","DOI":"10.1111\/cge.13486","type":"journal-article","created":{"date-parts":[[2018,11,26]],"date-time":"2018-11-26T06:14:53Z","timestamp":1543212893000},"page":"409-414","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":17,"title":["Bi\u2010allelic recessive loss\u2010of\u2010function mutations in <i>FIGLA<\/i> cause premature ovarian insufficiency with short stature"],"prefix":"10.1111","volume":"95","author":[{"given":"Ping","family":"Yuan","sequence":"first","affiliation":[{"name":"IVF Center, Department of Obstetrics and Gynecology Sun Yat\u2010sen Memorial Hospital, Sun Yat\u2010sen University  Guangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zuyong","family":"He","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Biocontrol, School of Life Sciences Sun Yat\u2010sen University  Guangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Silong","family":"Sun","sequence":"additional","affiliation":[{"name":"BGI Genomics BGI\u2010Shenzhen  Shenzhen China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yu","family":"Li","sequence":"additional","affiliation":[{"name":"IVF Center, Department of Obstetrics and Gynecology Sun Yat\u2010sen Memorial Hospital, Sun Yat\u2010sen University  Guangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wenjun","family":"Wang","sequence":"additional","affiliation":[{"name":"IVF Center, Department of Obstetrics and Gynecology Sun Yat\u2010sen Memorial Hospital, Sun Yat\u2010sen University  Guangzhou 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