{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,18]],"date-time":"2026-06-18T10:54:04Z","timestamp":1781780044860,"version":"3.54.5"},"reference-count":20,"publisher":"SAGE Publications","issue":"4","license":[{"start":{"date-parts":[[2026,4,16]],"date-time":"2026-04-16T00:00:00Z","timestamp":1776297600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"funder":[{"DOI":"10.13039\/501100004735","name":"Natural Science Foundation of Hunan Province","doi-asserted-by":"publisher","award":["2024JJ9323"],"award-info":[{"award-number":["2024JJ9323"]}],"id":[{"id":"10.13039\/501100004735","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Hunan High-level Talents Gathering Project-Innovative Talents Project","award":["2021RC5014"],"award-info":[{"award-number":["2021RC5014"]}]}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Technology and Health Care"],"published-print":{"date-parts":[[2026,7]]},"abstract":"<jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>To explore the clinical and genetic characteristics of CNTNAP1 gene-related Lethal Congenital Contracture Syndrome Type 7 (LCCS7) and Congenital Hypomyelinating Neuropathy Type 3 (CHN3).<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>The clinical data and genetic test results of one patient were retrospectively analyzed. This patient had CNTNAP1 gene-related LCCS7 and admitted to hospital in 2013. A literature review was also conducted by searching for the CNTNAP1 gene or \u201cLethal Congenital Contracture Syndrome Type 7\u201d or \u201cCongenital Hypomyelinating Neuropathy Type 3\u201d in databases such as CNKI, Wanfang database and PubMed. The clinical and genetic characteristics of CNTNAP1-related LCCS7 and CHN3 diseases were summarized.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>The proband was a female. Prenatal ultrasound showed polyhydramnios, few swallowing and respiratory movements, and a fixed fetal posture. She was born at 33 weeks due to premature rupture of membranes. After birth, she exhibited no cry, respiratory distress, and low muscle tone. She received a series of treatments in the obstetrics department, and was ultimately transferred to neonatology of our hospital due to \u201crespiratory distress in a premature infant.\u201d Since the fetus had abnormalities in utero, prenatal family exome sequencing was performed, which revealed two pathogenic mutations, c.1699G\u2009&gt;\u2009T and c.789G\u2009&gt;\u2009T, in the CNTNAP1 gene. c.1699G\u2009&gt;\u2009T was inherited from the father, and c.789G\u2009&gt;\u2009T was inherited from the mother, confirming compound heterozygosity. The infant died on the 13th day after premature birth. We retrieved 16 reports of CNTNAP1 gene-related LCCS7\/CHN3 with 44 patients, and a total of 45 patients were analyzed combined with 1 case in this study. The main clinical manifestations included polyhydramnios (29 cases), fetal akinesia (12 cases), respiratory distress (35 cases), hypotonia (42 cases), hypomyelination (28 cases), and seizures (11 cases).<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>the CNTNAP1 gene test can be considered for polyhydramnios, fetal akinesia, postnatal respiratory distress, hypotonia, and neurological abnormalities.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1177\/09287329261438651","type":"journal-article","created":{"date-parts":[[2026,4,16]],"date-time":"2026-04-16T14:20:41Z","timestamp":1776349241000},"page":"509-515","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":0,"title":["A case of\n                    <i>CNTNAP1<\/i>\n                    gene-related abnormality and literature review"],"prefix":"10.1177","volume":"34","author":[{"given":"Menghua","family":"Zhao","sequence":"first","affiliation":[{"name":"Children's Medical Center, Hunan Provincial People's Hospital and The First Affiliated Hospital of Hunan Normal University, Changsha, Hunan 410005, P.R. China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Li","family":"Huang","sequence":"additional","affiliation":[{"name":"Children's Medical Center, Hunan Provincial People's Hospital and The First Affiliated Hospital of Hunan Normal University, Changsha, Hunan 410005, P.R. China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Furong","family":"Huang","sequence":"additional","affiliation":[{"name":"Children's Medical Center, Hunan Provincial People's Hospital and The First Affiliated Hospital of Hunan Normal University, Changsha, Hunan 410005, P.R. China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jun","family":"Xu","sequence":"additional","affiliation":[{"name":"Children's Medical Center, Hunan Provincial People's Hospital and The First Affiliated Hospital of Hunan Normal University, Changsha, Hunan 410005, P.R. China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wang","family":"Duane","sequence":"additional","affiliation":[{"name":"Children's Medical Center, Hunan Provincial People's Hospital and The First Affiliated Hospital of Hunan Normal University, Changsha, Hunan 410005, P.R. China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aimin","family":"Zhang","sequence":"additional","affiliation":[{"name":"Children's Medical Center, Hunan Provincial People's Hospital and The First Affiliated Hospital of Hunan Normal University, Changsha, Hunan 410005, P.R. China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2026,4,16]]},"reference":[{"key":"e_1_3_2_2_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0166-2236(98)01267-3"},{"key":"e_1_3_2_3_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0896-6273(01)00294-X"},{"key":"e_1_3_2_4_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.conb.2010.08.009"},{"key":"e_1_3_2_5_2","doi-asserted-by":"publisher","DOI":"10.1172\/jci.insight.135697"},{"key":"e_1_3_2_6_2","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_3_2_7_2","doi-asserted-by":"publisher","DOI":"10.1002\/jgm.3513"},{"key":"e_1_3_2_8_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejpn.2022.01.015"},{"key":"e_1_3_2_9_2","unstructured":"Analysis of CNTNAP1 gene variation in a family with fatal congenital contracture syndrome type 7.pdf."},{"key":"e_1_3_2_10_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.parkreldis.2020.04.003"},{"key":"e_1_3_2_11_2","doi-asserted-by":"publisher","DOI":"10.1155\/2020\/8795607"},{"key":"e_1_3_2_12_2","doi-asserted-by":"publisher","DOI":"10.1002\/mus.26658"},{"key":"e_1_3_2_13_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.pediatrneurol.2018.12.014"},{"key":"e_1_3_2_14_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41431-018-0110-x"},{"key":"e_1_3_2_15_2","doi-asserted-by":"publisher","DOI":"10.1177\/0883073818776157"},{"key":"e_1_3_2_16_2","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2016.142"},{"key":"e_1_3_2_17_2","doi-asserted-by":"publisher","DOI":"10.1093\/jnen\/nlw093"},{"key":"e_1_3_2_18_2","doi-asserted-by":"publisher","DOI":"10.1212\/NXG.0000000000000144"},{"key":"e_1_3_2_19_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2017.02.006"},{"key":"e_1_3_2_20_2","doi-asserted-by":"publisher","DOI":"10.1002\/mus.25416"},{"key":"e_1_3_2_21_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddt618"}],"container-title":["Technology and Health Care"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/09287329261438651","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/09287329261438651","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/09287329261438651","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,6,18]],"date-time":"2026-06-18T10:19:39Z","timestamp":1781777979000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/09287329261438651"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,4,16]]},"references-count":20,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2026,7]]}},"alternative-id":["10.1177\/09287329261438651"],"URL":"https:\/\/doi.org\/10.1177\/09287329261438651","relation":{},"ISSN":["0928-7329","1878-7401"],"issn-type":[{"value":"0928-7329","type":"print"},{"value":"1878-7401","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,4,16]]}}}