{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T14:38:37Z","timestamp":1787063917784,"version":"build-2736575974"},"reference-count":23,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2022,11,18]],"date-time":"2022-11-18T00:00:00Z","timestamp":1668729600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation","doi-asserted-by":"publisher","award":["81371215, 81670786"],"award-info":[{"award-number":["81371215, 81670786"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Pediatr."],"abstract":"<jats:p>\n                    The myelin regulatory factor (\n                    <jats:italic>MYRF<\/jats:italic>\n                    ; MIM# 608329) gene was first identified as a critical transcription factor involved in oligodendrocyte differentiation and central nervous system myelination. With the recent development of exome sequencing, pathogenic variants of\n                    <jats:italic>MYRF<\/jats:italic>\n                    had been considered as the cause of cardiac-urogenital syndrome (CUGS), 46,XY and 46,XX disorders\/differences of sex development (DSDs), and nanophthalmos. Herein, we described a 4-year-7-month-old \u201cgirl\u201d with ventricular septal defect, atrial septal defect, patent ductus arteriosus, severe pulmonary hypertension, moderate-to-severe tricuspid regurgitation, enlarged coronary sinus, left superior vena cava, and right lung hypoplasia at birth. Later, the patient developed short stature and amblyopia. Further examination revealed a karyotype 46,XY and visible uterus, whereas the presence of gonads were not explored. Laparoscopy revealed dysplasia of testicular gonad. Whole-exome sequencing (WES) was performed and a\n                    <jats:italic>de novo<\/jats:italic>\n                    heterozygous mutation in\n                    <jats:italic>MYRF<\/jats:italic>\n                    was identified, known as c.2817G\u2009&amp;gt;\u2009A\/p. W939* (NM_001127392.3). Therefore, this case report presented multiple clinical manifestations with syndromic symptoms of CUGS, 46,XY DSD, and ocular symptoms. These new data expanded the phenotype of the\n                    <jats:italic>MYRF<\/jats:italic>\n                    variant and may benefit to characterize the phenotypes caused by the variants of this gene.\n                  <\/jats:p>","DOI":"10.3389\/fped.2022.1027832","type":"journal-article","created":{"date-parts":[[2022,11,18]],"date-time":"2022-11-18T01:05:51Z","timestamp":1668733551000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":5,"title":["Case Report: De novo variant in myelin regulatory factor in a Chinese child with 46,XY disorder\/difference of sex development, cardiac and urogenital anomalies, and short 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