{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,3]],"date-time":"2026-11-03T22:21:04Z","timestamp":1793744464418,"version":"4.6.1"},"reference-count":55,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2019,9,11]],"date-time":"2019-09-11T00:00:00Z","timestamp":1568160000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81801128"],"award-info":[{"award-number":["81801128"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2019,11]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>This study aimed to investigate the new genetic etiologies of Rett syndrome (RTT) or Rett\u2010like phenotypes.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      Targeted next\u2010generation sequencing (NGS) was performed on 44 Chinese patients with RTT or Rett\u2010like phenotypes, in whom genetic analysis of\n                      <jats:italic>MECP2<\/jats:italic>\n                      ,\n                      <jats:italic>CDKL5,<\/jats:italic>\n                      and\n                      <jats:italic>FOXG1<\/jats:italic>\n                      was negative.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      The detection rate was 31.8% (14\/44). A de novo pathogenic variant (c.275_276ins AA, p. Cys92*) of\n                      <jats:italic>KIF1A<\/jats:italic>\n                      was identified in a girl with all core features of typical RTT. A patient with atypical RTT was detected having de novo\n                      <jats:italic>GRIN1<\/jats:italic>\n                      pathogenic variant (c.2337C\u00a0&gt;\u00a0A, p. Val793Phe). Additionally, compound heterozygous pathogenic variants of\n                      <jats:italic>PPT1<\/jats:italic>\n                      gene were detected in a girl, who initially displayed typical RTT features, but progressed into neuronal ceroid lipofuscinoses (NCL) afterwards. Pathogenic variants in\n                      <jats:italic>KCNQ2<\/jats:italic>\n                      ,\n                      <jats:italic>MEF2C<\/jats:italic>\n                      ,\n                      <jats:italic>WDR45<\/jats:italic>\n                      ,\n                      <jats:italic>TCF4<\/jats:italic>\n                      ,\n                      <jats:italic>IQSEC2,<\/jats:italic>\n                      and\n                      <jats:italic>SDHA<\/jats:italic>\n                      were also found in our cohort.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>\n                      It is the first time that pathogenic variants of\n                      <jats:italic>GRIN1<\/jats:italic>\n                      and\n                      <jats:italic>KIF1A<\/jats:italic>\n                      were linked to RTT and Rett\u2010like profiles. Our findings expanded the genetic heterogeneity of Chinese RTT or Rett\u2010like patients, and also suggest that some patients with genetic metabolic disease such as NCL, might displayed Rett features initially, and clinical follow\u2010up is essential for the diagnosis.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/mgg3.968","type":"journal-article","created":{"date-parts":[[2019,9,12]],"date-time":"2019-09-12T00:14:27Z","timestamp":1568247267000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":47,"title":["Rett and Rett\u2010like syndrome: Expanding the genetic spectrum to\n                    <i>KIF1A<\/i>\n                    and\n                    <i>GRIN1<\/i>\n                    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