{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,8]],"date-time":"2026-09-08T23:06:31Z","timestamp":1788908791512,"version":"build-2803163510"},"reference-count":63,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2026,9,9]],"date-time":"2026-09-09T00:00:00Z","timestamp":1788912000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Genet."],"abstract":"\n Background<\/jats:title>\n Isolated lissencephaly sequence (ILS) is a severe neurodevelopmental disorder associated with 17p13.3 microdeletion. This 6-year longitudinal study aimed to systematically characterize physical and neurodevelopmental trajectories of a Chinese ILS patient and offer evidence for early diagnosis and clinical intervention.<\/jats:p>\n <\/jats:sec>\n \n Methods<\/jats:title>\n From April 2021 to April 2026, a child with severe developmental delay and his family members (parents and elder brother) were recruited in Lianyungang, eastern China. Trio whole-exome sequencing (trio-WES) and copy number variation sequencing (CNV-seq) were used to identify the pathogenic variant. Serial physical growth and neurodevelopmental assessments were conducted during the 6-year longitudinal follow-up. Bioinformatics analysis was used to explore potential molecular pathogenic mechanisms.<\/jats:p>\n <\/jats:sec>\n \n Results<\/jats:title>\n \n A\n de novo<\/jats:italic>\n 2.06\u00a0Mb heterozygous deletion at 17p13.3p13.2 (chr17:1707883_3765621del, GRCh37) was identified in the proband, which included\n PAFAH1B1<\/jats:italic>\n but spared\n YWHAE<\/jats:italic>\n and\n CRK<\/jats:italic>\n . Longitudinal data showed a progressive decline in both height and weight. Height Z score decreased from \u22120.37\u00a0at 2 months to \u22121.92\u00a0at 57 months. Weight Z score decreased from \u22121.25\u00a0at 2 months to \u22121.79\u00a0at 57 months. Gesell developmental quotients (DQ) showed significant progressive declines in five domains with a decelerating trajectory: adaptive behavior (B\n 2<\/jats:sub>\n = 0.019, 95%\n CI<\/jats:italic>\n : 0.002\u20130.036,\n R<\/jats:italic>\n \n Q<\/jats:italic>\n <\/jats:sub>\n \n 2<\/jats:italic>\n <\/jats:sup>\n =<\/jats:italic>\n 0.978), gross motor (B\n 2<\/jats:sub>\n = 0.013, 95%\n CI<\/jats:italic>\n : -0.004 \u2013 0.030,\n R<\/jats:italic>\n \n Q<\/jats:italic>\n <\/jats:sub>\n \n 2<\/jats:italic>\n <\/jats:sup>\n =<\/jats:italic>\n 0.944), fine motor (B\n 2<\/jats:sub>\n = 0.017, 95%\n CI<\/jats:italic>\n : -0.012 \u2013 0.047,\n R<\/jats:italic>\n \n Q<\/jats:italic>\n <\/jats:sub>\n \n 2<\/jats:italic>\n <\/jats:sup>\n =<\/jats:italic>\n 0.870), language (B\n 2<\/jats:sub>\n = 0.021, 95%\n CI<\/jats:italic>\n : -0.006 \u2013 0.049,\n R<\/jats:italic>\n \n Q<\/jats:italic>\n <\/jats:sub>\n \n 2<\/jats:italic>\n <\/jats:sup>\n =<\/jats:italic>\n 0.905), personal social behavior (B\n 2<\/jats:sub>\n = 0.020, 95%\n CI<\/jats:italic>\n : -0.014 - 0.054,\n R<\/jats:italic>\n \n Q<\/jats:italic>\n <\/jats:sub>\n \n 2<\/jats:italic>\n <\/jats:sup>\n =<\/jats:italic>\n 0.847). Bioinformatics analysis confirmed that haploinsufficiency of the\n PAFAH1B1<\/jats:italic>\n gene was the primary pathogenic cause. Furthermore, genes in the deleted region were significantly enriched in olfactory perception and calcium ion transmembrane transport pathways.\n <\/jats:p>\n <\/jats:sec>\n \n Conclusion<\/jats:title>\n \n This study reports a 6-year longitudinal follow-up of ILS in a Chinese patient.\n PAFAH1B1<\/jats:italic>\n haploinsufficiency causes the core lissencephaly phenotype, while co-deletion of olfactory and calcium-regulatory genes may exert synergistic effects. These findings expand the phenotypic spectrum of ILS in Chinese populations and provide insights for mechanistic studies and genetic counseling.\n <\/jats:p>\n <\/jats:sec>","DOI":"10.3389\/fgene.2026.1866451","type":"journal-article","created":{"date-parts":[[2026,9,8]],"date-time":"2026-09-08T22:10:19Z","timestamp":1788905419000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["Genotype-phenotypic correlation in a Chinese patient with isolated lissencephaly sequence caused by 17p13.3p13.2 chromosomal microdeletion: a 6-year follow-up study"],"prefix":"10.3389","volume":"17","author":[{"given":"Jiao","family":"Tong","sequence":"first","affiliation":[{"name":"Lianyungang Maternal and Child Health Hospital Affiliated to Kangda College of Nanjing Medical University","place":["Lianyungang, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xu","family":"Chen","sequence":"additional","affiliation":[{"name":"Lianyungang Maternal and Child Health Hospital Affiliated to Kangda College of Nanjing Medical University","place":["Lianyungang, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tao","family":"Wang","sequence":"additional","affiliation":[{"name":"Lianyungang Maternal and Child Health Hospital Affiliated to Kangda College of Nanjing Medical University","place":["Lianyungang, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shan","family":"Ma","sequence":"additional","affiliation":[{"name":"Lianyungang Maternal and Child Health Hospital Affiliated to Kangda College of Nanjing Medical University","place":["Lianyungang, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yali","family":"Zhao","sequence":"additional","affiliation":[{"name":"Lianyungang Maternal and Child Health Hospital Affiliated to Kangda College of Nanjing Medical University","place":["Lianyungang, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dongdong","family":"Shi","sequence":"additional","affiliation":[{"name":"Lianyungang Maternal and Child Health Hospital Affiliated to Kangda College of Nanjing Medical University","place":["Lianyungang, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xin","family":"Wang","sequence":"additional","affiliation":[{"name":"Lianyungang Maternal and Child Health Hospital Affiliated to Kangda College of Nanjing Medical University","place":["Lianyungang, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dongmei","family":"Yan","sequence":"additional","affiliation":[{"name":"Lianyungang Maternal and Child Health Hospital Affiliated to Kangda College of Nanjing Medical University","place":["Lianyungang, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2026,9,9]]},"reference":[{"key":"B1","doi-asserted-by":"crossref","DOI":"10.1176\/appi.books.9780890425596","volume-title":"Diagnostic and Statistical Manual of Mental Disorders","author":"Association","year":"2013"},{"key":"B2","doi-asserted-by":"publisher","first-page":"517","DOI":"10.1038\/nrm1155","article-title":"Calcium signalling: dynamics, homeostasis and remodelling","volume":"4","author":"Berridge","year":"2003","journal-title":"Nat. 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