{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,30]],"date-time":"2026-07-30T06:01:43Z","timestamp":1785391303990,"version":"3.55.0"},"reference-count":30,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2026,7,30]],"date-time":"2026-07-30T00:00:00Z","timestamp":1785369600000},"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. Cell Dev. Biol."],"abstract":"<jats:p>\n                    Members of the immunoglobulin superfamily (IgSF) are cell-surface proteins essential for a wide range of biological processes, including molecular transport, morphoregulation, and cell differentiation. IGSF10, a member of this family, has been identified as a disease-associated gene in delayed puberty and cleidocranial dysplasia. In this study, a Chinese patient with delayed puberty, microcephaly, scoliosis, and epilepsy was investigated. The genetic defect and immune alterations were assessed using whole-exome sequencing, Sanger sequencing, and single-cell RNA sequencing. After variant filtering, a novel IGSF10 variant, NM_178,822.5:c.4518del (p.His1506Gln fs Ter13), was identified in the proband. Sanger sequencing indicated that this variant was\n                    <jats:italic>de novo<\/jats:italic>\n                    , as it was present only in the proband and absent from her parents. Quantitative real-time PCR showed that the newly identified variant was associated with reduced IGSF10 mRNA abundance, consistent with nonsense-mediated decay. Single-cell RNA sequencing of peripheral blood mononuclear cells revealed that this variant was associated with marked alterations in effector T-cell and monocyte populations. Further analysis suggested altered differentiation patterns of T cells and monocytes, supporting the hypothesis that immune perturbations may contribute to the patient\u2019s reproductive, neurological, and skeletal phenotypes, although this possibility requires functional validation. A novel IGSF10 variant was identified in a Chinese patient with delayed puberty, microcephaly, scoliosis, and epilepsy. This case expands the mutational spectrum of IGSF10 deficiency and suggests that its phenotypic spectrum may include scoliosis and epilepsy, pending further confirmation. These findings also provide preliminary insight into the potential interplay among IGSF10, immune function, hormone secretion, and brain and skeletal development.\n                  <\/jats:p>","DOI":"10.3389\/fcell.2026.1816964","type":"journal-article","created":{"date-parts":[[2026,7,30]],"date-time":"2026-07-30T05:40:41Z","timestamp":1785390041000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["Clinical and immunological features of a patient exhibiting delayed puberty, microcephaly, scoliosis and epilepsy caused by a novel mutation in IGSF10"],"prefix":"10.3389","volume":"14","author":[{"given":"Gao-Hui","family":"Cao","sequence":"first","affiliation":[{"name":"Department of Obstetrics and Gynecology, The Third Xiangya Hospital, Central South University","place":["Changsha, Hunan, China"]},{"name":"Department of Cell Biology, School of Life Science, Central South University","place":["Changsha, Hunan, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lv","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Respiratory Medicine, Second Xiangya Hospital of Central South University, Research Unit of Respiratory Disease of Central South University, Clinical Medical Research Center for Pulmonary and Critical Care Medicine in Hunan Province, Diagnosis and Treatment Center of Respiratory Disease in Hunan Province, Hunan Province Evidence-Based Medicine Center","place":["Changsha, Hunan, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhen","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Neurology, Affiliated Hospital of Yangzhou University, Yangzhou University","place":["Yangzhou, Jiangsu, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lei","family":"Zhu","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology, Ordos Central Hospital","place":["Ordos, Inner Mongolia, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Na","family":"Ta","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology, Ordos Central Hospital","place":["Ordos, Inner Mongolia, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yi-Hui","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Neurology, Affiliated Hospital of Yangzhou University, Yangzhou University","place":["Yangzhou, Jiangsu, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ai-Qian","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology, The Third Xiangya Hospital, Central South University","place":["Changsha, Hunan, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Liang-Liang","family":"Fan","sequence":"additional","affiliation":[{"name":"Department of Cell Biology, School of Life Science, Central South University","place":["Changsha, Hunan, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2026,7,30]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"103","DOI":"10.1530\/EJE-18-0764","article-title":"New genetic findings in a large cohort of congenital hypogonadotropic hypogonadism","volume":"181","author":"Amato","year":"2019","journal-title":"Eur. 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