{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,23]],"date-time":"2026-07-23T16:23:37Z","timestamp":1784823817684,"version":"3.55.0"},"reference-count":6,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2020,8,12]],"date-time":"2020-08-12T00:00:00Z","timestamp":1597190400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2020,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>N\u00e9stor\u2010Guillermo progeria syndrome (NGPS; OMIM 614008) is characterized by early onset and slow progression of symptoms including poor growth, lipoatrophy, pseudosenile facial appearance, and normal cognitive development. In contrast to other progeria syndromes, NGPS is associated with a longer lifespan and higher risk for developing severe skeletal abnormalities. It is an autosomal recessive condition caused by biallelic pathogenic variants in <jats:italic>BANF1<\/jats:italic>. There are two previously reported patients with NGPS, both Spanish with molecular diagnoses made in adulthood and having the same homozygous pathogenic variant c.34G\u2009&gt;\u2009A; p.Ala12Thr. Presented here is a 2\u2009year, 8\u2009month old girl with short stature, poor weight gain, sparse hair, and dysmorphic facial features reminiscent of premature aging. Whole exome sequencing identified the same c.34G\u2009&gt;\u2009A homozygous pathogenic variant in <jats:italic>BANF1<\/jats:italic> as reported in the previous patients. This is the first reported case of a child and is supporting evidence for this recurrent loss of function variant.<\/jats:p>","DOI":"10.1002\/ajmg.a.61777","type":"journal-article","created":{"date-parts":[[2020,8,12]],"date-time":"2020-08-12T07:25:22Z","timestamp":1597217122000},"page":"2399-2402","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":14,"title":["An additional case of <scp>N\u00e9stor\u2010Guillermo<\/scp> progeria syndrome diagnosed in early childhood"],"prefix":"10.1002","volume":"182","author":[{"given":"Heather G.","family":"Fisher","sequence":"first","affiliation":[{"name":"Department of Pediatrics Children\u2019s Health  Dallas Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nivedita","family":"Patni","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Texas Southwestern Medical Center  Dallas Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9025-3276","authenticated-orcid":false,"given":"Angela E.","family":"Scheuerle","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Texas Southwestern Medical Center  Dallas Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,8,12]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2012.04.043"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.34249"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature01629"},{"key":"e_1_2_6_5_1","first-page":"1993","volume-title":"GeneReviews\u00ae [Internet]","author":"Gordon, L. 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