{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T01:39:15Z","timestamp":1791164355729,"version":"4.1.0"},"reference-count":13,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2011,8,3]],"date-time":"2011-08-03T00:00:00Z","timestamp":1312329600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2011,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Microdeletion syndromes include numerous syndromic phenotypes associated with intellectual disability and dysmorphic features. We report on a patient with a novel microdeletion of chromosomal region 3p11.2\u2010p12.1 containing <jats:italic>POU1F1<\/jats:italic>, chromatin\u2010modifying protein 2B (<jats:italic>CHMP2B<\/jats:italic>), and vestigial\u2010like 3 (<jats:italic>VGLL3<\/jats:italic>) genes. Our patient was diagnosed as having a neonatal multiple pituitary hormone [growth hormone (GH), thyroid\u2010stimulating hormone (TSH), and prolactin] deficiency. In addition to the typical findings associated with these hormonal deficiencies, she exhibited clinical features resembling those of Laron syndrome (frontal bossing, saddle nose, small chin, blue sclera, and acromicria), with moderate intellectual disability. She also displayed an unusual growth pattern characterized by unresponsiveness to high doses of GH replacement therapy during infancy and early childhood and an accelerated growth rate beginning at the age of 4.5 years. Insulin\u2010like growth factor (IGF)\u20101 levels were consistently extremely low or undetectable. Extensive medical and genetic analysis ruled out primary and secondary GH insensitivity. The distinct phenotype and the peculiar growth pattern observed in this affected patient, not reported to have been observed in other cases with <jats:italic>POU1F1<\/jats:italic> gene inactivity, suggest that the other two deleted genes play a possible role in the development of this syndrome. This hypothesis may be supported by the fact that both the <jats:italic>CHMP2B<\/jats:italic> and <jats:italic>VGLL3<\/jats:italic> genes are expressed in the liver and the growth plate, the two main target organs of the GH\/IGF\u20101 axis. The homozygous deletion of the <jats:italic>CHMP2B<\/jats:italic> gene, previously associated with frontotemporal dementia, may contribute to the intellectual disability observed in this patient. \u00a9 2011 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.34136","type":"journal-article","created":{"date-parts":[[2011,8,3]],"date-time":"2011-08-03T18:12:48Z","timestamp":1312395168000},"page":"2242-2246","source":"Crossref","is-referenced-by-count":11,"title":["Homozygous microdeletion of the <i>POU1F1<\/i>, <i>CHMP2B<\/i>, and <i>VGLL3<\/i> genes in chromosome 3\u2014A novel syndrome"],"prefix":"10.1002","volume":"155","author":[{"given":"Galia","family":"Gat\u2010Yablonski","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rachel Frumkin\u2010Ben","family":"David","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Meytal","family":"Bar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Olga","family":"Potievsky","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Moshe","family":"Phillip","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Liora","family":"Lazar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2011,8,3]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1210\/er.22.1.2"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.192693499"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bone.2007.10.015"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1515\/JPEM.2002.15.3.325"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1515\/JPEM.2005.18.4.385"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M206858200"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1086\/323266"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1159\/000184824"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1096-6374(03)00015-7"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1210\/me.16.3.450"},{"key":"e_1_2_5_12_1","first-page":"1291","volume-title":"The metabolic & molecular bases of inherited disease","author":"Shaffer LG","year":"2001"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1609"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddm309"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.34136","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.34136","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T17:52:38Z","timestamp":1697651558000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.34136"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011,8,3]]},"references-count":13,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2011,9]]}},"alternative-id":["10.1002\/ajmg.a.34136"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.34136","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2011,8,3]]}}}