{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,21]],"date-time":"2026-02-21T03:34:09Z","timestamp":1771644849287,"version":"3.50.1"},"reference-count":9,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2022,9,24]],"date-time":"2022-09-24T00:00:00Z","timestamp":1663977600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp; Gen Med"],"published-print":{"date-parts":[[2023,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies (NEDDFL) is a rare neurodevelopmental disease caused by <jats:italic>BPTF<\/jats:italic> gene variants. To date, there are only 36 cases reported in the literature, and patients mainly presented with a developmental delay, language delay, and microcephaly. About 35% of the patients had short stature, but there had no reports published on the treatment.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>The exome sequencing was performed in two probands. Sanger sequencing was used to confirm the identified variants both in probands and their parents.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>As for the Chinese population, we report two novel variants in <jats:italic>BPTF<\/jats:italic> gene (NM_004459.6: c.1133G&gt;A, c.5941delC) causing NEDDFL from two unrelated families. Both children had short stature and responded to recombinant human growth hormone (rhGH) treatment \u2013 the first report of this therapy in NEDDFL patients.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Our findings broaden the genotypic spectrum of <jats:italic>BPTF<\/jats:italic> variants. The salutary effect of rhGH in the NEDDFL is documented.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.2066","type":"journal-article","created":{"date-parts":[[2022,9,25]],"date-time":"2022-09-25T06:23:56Z","timestamp":1664087036000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["The effect of growth hormone treatment in children with novel <i>BPTF<\/i> gene variants: A report of two cases and literature review"],"prefix":"10.1002","volume":"11","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6225-7248","authenticated-orcid":false,"given":"Wenyong","family":"Wu","sequence":"first","affiliation":[{"name":"Fuzhou Children's Hospital of Fujian Medical University  Fuzhou Fujian China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ruimin","family":"Chen","sequence":"additional","affiliation":[{"name":"Fuzhou Children's Hospital of Fujian Medical University  Fuzhou Fujian China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2022,9,24]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/wdev.89"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.62102"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1128\/mcb.01058\u201008"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1000241"},{"issue":"7","key":"e_1_2_11_6_1","first-page":"493","article-title":"Body mass index growth curves for Chinese children and adolescents aged 0 to 18\u2009years","volume":"47","author":"Li H.","year":"2009","journal-title":"Zhonghua Er Ke Za Zhi"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.13490"},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_11_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2017.08.014"},{"key":"e_1_2_11_10_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddac119"}],"container-title":["Molecular Genetics &amp; Genomic Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mgg3.2066","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/mgg3.2066","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mgg3.2066","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,20]],"date-time":"2023-08-20T20:09:25Z","timestamp":1692562165000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mgg3.2066"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,9,24]]},"references-count":9,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2023,1]]}},"alternative-id":["10.1002\/mgg3.2066"],"URL":"https:\/\/doi.org\/10.1002\/mgg3.2066","archive":["Portico"],"relation":{},"ISSN":["2324-9269","2324-9269"],"issn-type":[{"value":"2324-9269","type":"print"},{"value":"2324-9269","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,9,24]]},"assertion":[{"value":"2022-06-10","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-09-16","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-09-24","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e2066"}}