{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,30]],"date-time":"2026-04-30T04:35:35Z","timestamp":1777523735875,"version":"3.51.4"},"reference-count":25,"publisher":"SAGE Publications","issue":"6","license":[{"start":{"date-parts":[[2024,2,28]],"date-time":"2024-02-28T00:00:00Z","timestamp":1709078400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"funder":[{"name":"Guangdong Basic and Applied Basic Research Commission","award":["2021A1515220168"],"award-info":[{"award-number":["2021A1515220168"]}]},{"name":"Guangzhou Science and Technology Innovation Commission","award":["202102020133"],"award-info":[{"award-number":["202102020133"]}]},{"name":"Guangzhou Science and Technology Innovation Commission","award":["202102080455"],"award-info":[{"award-number":["202102080455"]}]}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["The Cleft Palate Craniofacial Journal"],"published-print":{"date-parts":[[2025,6]]},"abstract":"<jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>\n                      Auriculocondylar syndrome (ARCND) is a set of rare craniofacial malformations characterized by variable micrognathia, ear malformations, and mandibular condyle hypoplasia, and other accompanying features with phenotypic complexity. ARCND2 caused by pathogenic variants in the\n                      <jats:italic>PLCB4<\/jats:italic>\n                      gene is a very rare disease with less than 50 patients reported and only 36 different variants of the\n                      <jats:italic>PLCB4<\/jats:italic>\n                      gene recorded in HGMD. This study aims to enrich the patient resources, clinical data and mutational spectrum of ARCND2.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Design<\/jats:title>\n                    <jats:p>Case series study.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Setting<\/jats:title>\n                    <jats:p>Guangzhou Women and Children's Medical Center and Guangdong Women and Children Hospital.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Patients<\/jats:title>\n                    <jats:p>Two Chinese patients with ARCND2.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Main Outcome Measures<\/jats:title>\n                    <jats:p>Clinical, radiological and molecular findings.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Both the two patients presented with craniofacial and ear malformations, and feeding difficulties. Whole exome sequencing identified two different variants of the\n                      <jats:italic>PLCB4<\/jats:italic>\n                      gene in these two patients with a heterozygous allele and a\n                      <jats:italic>de novo<\/jats:italic>\n                      mode of inheritance respectively. Patient 1 carried a known pathogenic c.1861C\u2009&gt;\u2009T(p.Arg621Cys) missense variant, whereas Patient 2 had a novel c.225\u2009+\u20091G\u2009&gt;\u2009A splicing variant. Sanger sequencing confirmed the presence of\n                      <jats:italic>PLCB4<\/jats:italic>\n                      variants in the proband and absence in the unaffected parents. These two\n                      <jats:italic>PLCB4<\/jats:italic>\n                      variants were suggested as disease-causing candidates for these two patients. During a 5-year follow-up, Patient 2 gradually manifested crowded teeth, underweight, motor delay and intellectual disability.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>\n                      In this study, we report two Chinese patients with ARCND2, describe their clinical and mutational features, and share a 5-year follow-up of one patient. Our study adds two additional patients to ARCND2, reveals a novel\n                      <jats:italic>PLCB4<\/jats:italic>\n                      variant, and expands the phenotypic and genotypic spectrum.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1177\/10556656241234575","type":"journal-article","created":{"date-parts":[[2024,2,28]],"date-time":"2024-02-28T03:35:34Z","timestamp":1709091334000},"page":"914-920","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":0,"title":["Two Chinese Patients of Auriculocondylar Syndrome 2: A Novel\n                    <i>PLCB4<\/i>\n                    Splicing Variant and 5-Year Follow-up"],"prefix":"10.1177","volume":"62","author":[{"given":"Yunting","family":"Lin","sequence":"first","affiliation":[{"name":"Department of Genetics and Endocrinology, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangdong Provincial Clinical Research Center for Child Health, Guangzhou 510623, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ye","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology and Inherited Metabolic Diseases, Guangdong Women and Children Hospital, Guangzhou 511442, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jian","family":"Ma","sequence":"additional","affiliation":[{"name":"Translational Medicine Center, Guangdong Women and Children Hospital, Guangzhou 511442, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shu","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology and Inherited Metabolic Diseases, Guangdong Women and Children Hospital, Guangzhou 511442, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yongxi","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Radiology, Guangdong Women and Children Hospital, Guangzhou 511442, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chaoxiang","family":"Yang","sequence":"additional","affiliation":[{"name":"Department of Radiology, Guangdong Women and Children Hospital, Guangzhou 511442, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5954-1803","authenticated-orcid":false,"given":"Chunhua","family":"Zeng","sequence":"additional","affiliation":[{"name":"Department of Genetics and Endocrinology, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangdong Provincial Clinical Research Center for Child Health, Guangzhou 510623, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xianqiong","family":"Luo","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology and Inherited Metabolic Diseases, Guangdong Women and Children Hospital, Guangzhou 511442, China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2024,2,28]]},"reference":[{"key":"e_1_3_4_2_2","doi-asserted-by":"publisher","DOI":"10.1097\/00006534-197011000-00006"},{"key":"e_1_3_4_3_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32950"},{"key":"e_1_3_4_4_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2020.103917"},{"key":"e_1_3_4_5_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36066"},{"key":"e_1_3_4_6_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.31376"},{"key":"e_1_3_4_7_2","doi-asserted-by":"publisher","DOI":"10.1007\/s13353-020-00591-3"},{"key":"e_1_3_4_8_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.04.002"},{"key":"e_1_3_4_9_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2013.10.023"},{"key":"e_1_3_4_10_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2021-107825"},{"key":"e_1_3_4_11_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37625"},{"key":"e_1_3_4_12_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38101"},{"key":"e_1_3_4_13_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.62634"},{"key":"e_1_3_4_14_2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.24349"},{"key":"e_1_3_4_15_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2012-101331"},{"key":"e_1_3_4_16_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-019-01985-y"},{"key":"e_1_3_4_17_2","doi-asserted-by":"publisher","DOI":"10.5336\/caserep.2022-89352"},{"issue":"2","key":"e_1_3_4_18_2","first-page":"105","article-title":"The clinical and genetic analysis of gene mutations in mandibular dysplasia and question mark ear malformation","volume":"47","author":"Fan R","year":"2022","unstructured":"Fan R, Li D, Zhang J, Zhu B. 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