{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,11]],"date-time":"2026-05-11T13:16:39Z","timestamp":1778505399930,"version":"3.51.4"},"reference-count":17,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2020,6,29]],"date-time":"2020-06-29T00:00:00Z","timestamp":1593388800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Jining Science and Technology Bureau","award":["2019SMNS023"],"award-info":[{"award-number":["2019SMNS023"]}]},{"name":"Jining Science and Technology Bureau","award":["2017SMNS007"],"award-info":[{"award-number":["2017SMNS007"]}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2020,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>SHORT syndrome is a rare inherited multisystem disease that includes characteristic facial features, growth retardation, and metabolic anomalies and is related to heterozygous mutations in the <jats:italic>PIK3R1<\/jats:italic> gene. However, it is difficult to ascertain the relationship between the phenotype and the genotype quickly and efficiently.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We report two Chinese girls with SHORT syndrome who presented with growth retardation, dysmorphic features, insulin resistance, and diabetes. Comprehensive medical evaluations were collected, including anthropometric measurements, laboratory measurements, and imaging examinations. Whole exome and Sanger sequencing was performed to detect and confirm the underlying genetic mutations in these patients. We prescribed metformin for the patients.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The patients both presented diabetes, insulin resistance, short stature, lipodystrophy, and characteristic facial dysmorphic features. A heterozygous mutation was detected in the <jats:italic>PIK3R1<\/jats:italic> gene (c.1615_1617del) of Patient 1. The analysis of patient 2 revealed another <jats:italic>PIK3R1<\/jats:italic> mutation (c.1945C&gt;T). After family validation, neither their parents nor their brothers had similar clinical presentations or carried the same mutation.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>We identified two de novo heterozygous mutations in <jats:italic>PIK3R1<\/jats:italic> as the cause of SHORT syndrome in two Chinese girls. Additionally, in terms of diabetes control, metformin works well in the early treatment stage.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.1385","type":"journal-article","created":{"date-parts":[[2020,6,30]],"date-time":"2020-06-30T05:16:42Z","timestamp":1593494202000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":17,"title":["SHORT syndrome in two Chinese girls: A case report and review of the literature"],"prefix":"10.1002","volume":"8","author":[{"given":"Yanhong","family":"Zhang","sequence":"first","affiliation":[{"name":"Department of Endocrinology, Affiliated Hospital of Jining Medical University Jining Medical University Jining China"},{"name":"Chinese Research Center for Behavior Medicine in Growth and Development Jining China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Baolan","family":"Ji","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, Affiliated Hospital of Jining Medical University Jining Medical University Jining China"},{"name":"Chinese Research Center for Behavior Medicine in Growth and Development Jining China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jinsheng","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Endocrinology Henan Hongli Hospital Changyuan City China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yanying","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, Affiliated Hospital of Jining Medical University Jining Medical University Jining China"},{"name":"Chinese Research Center for Behavior Medicine in Growth and Development Jining China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mei","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, Affiliated Hospital of Jining Medical University Jining Medical University Jining China"},{"name":"Chinese Research Center for Behavior Medicine in Growth and Development Jining China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3950-1422","authenticated-orcid":false,"given":"Bo","family":"Ban","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, Affiliated Hospital of Jining Medical University Jining Medical University Jining China"},{"name":"Chinese Research Center for Behavior Medicine in Growth and Development Jining China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2020,6,29]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.26.7.473"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2350-15-51"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2013.05.023"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12262"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2013.06.005"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.988"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13052\u2010017\u20100362\u2010z"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13098\u2010019\u20100477\u2010z"},{"issue":"7","key":"e_1_2_10_10_1","first-page":"487","article-title":"Height and weight standardized growth charts for Chinese children and adolescents aged 0 to 18 years","volume":"47","author":"Li H.","year":"2009","journal-title":"Chinese Journal of Pediatric"},{"issue":"7","key":"e_1_2_10_11_1","first-page":"493","article-title":"Body mass index growth curves for Chinese children and adolescents aged 0 to 18 years","volume":"47","author":"Li H.","year":"2009","journal-title":"Chinese Journal of Pediatr"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12688"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.1097\/00019605\u2010200301000\u201000008"},{"key":"e_1_2_10_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32250"},{"key":"e_1_2_10_15_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12263"},{"key":"e_1_2_10_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2013.05.019"},{"key":"e_1_2_10_17_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1651\u20102227.1994.tb13142.x"},{"key":"e_1_2_10_18_1","doi-asserted-by":"publisher","DOI":"10.1136\/archdischild\u20102012\u2010301885.236"}],"container-title":["Molecular Genetics &amp; 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