{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,12]],"date-time":"2026-09-12T00:43:05Z","timestamp":1789173785853,"version":"build-2803163510"},"reference-count":31,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2022,12,11]],"date-time":"2022-12-11T00:00:00Z","timestamp":1670716800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100014125","name":"Fujian Provincial Health Commission","doi-asserted-by":"publisher","award":["2020QNB045"],"award-info":[{"award-number":["2020QNB045"]}],"id":[{"id":"10.13039\/501100014125","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2023,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Congenital hemidysplasia with ichthyosiform nevus and limb defects (CHILD) syndrome is a rare X\u2010linked dominant, lethal male disorder caused by mutations to the <jats:italic>NSDHL<\/jats:italic> (NAD(P)H steroid dehydrogenase\u2010like protein) gene. It primarily exhibits strictly unilateral congenital hemidysplasia with ichthyosiform erythroderma and ipsilateral limb defects in female individuals.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>A Chinese couple suffering from recurrent spontaneous abortion in male fetuses was enrolled in this study. Chromosomal microarray analysis and whole\u2010exome sequencing were performed for genetic etiological diagnosis.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>A 33\u2010year\u2010old pregnant woman with recurrent spontaneous abortion was experiencing her third pregnancy with a male embryo. In this pregnancy, a miscarriage occurred at a gestational age of 10<jats:sup>+6<\/jats:sup>\u00a0weeks with no copy number variants. However, a novel mutation c.790\u20106C&gt;T in the <jats:italic>NSDHL<\/jats:italic> gene was observed in the fetus through whole\u2010exome sequencing (WES). Parental verification indicated that the <jats:italic>NSDHL<\/jats:italic> gene variant was inherited from the mother. Additionally, the variant in the <jats:italic>NSDHL<\/jats:italic> gene was absent in her subsequent pregnancy with a female fetus.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>In this study, we detected c.790\u20106C&gt;T, a novel variant in the <jats:italic>NSDHL<\/jats:italic> gene that results in recurrent miscarriage in males. Our study may broaden the scope of research on the <jats:italic>NSDHL<\/jats:italic> gene in CHILD syndrome and strengthens the application value of WES for the genetic etiological identification of recurrent miscarriage.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.2121","type":"journal-article","created":{"date-parts":[[2022,12,12]],"date-time":"2022-12-12T07:58:38Z","timestamp":1670831918000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Etiological identification of recurrent male fatality due to a novel <i>NSDHL<\/i> gene mutation using trio whole\u2010exome sequencing: A rare case report and literature review"],"prefix":"10.1002","volume":"11","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8087-205X","authenticated-orcid":false,"given":"Jianlong","family":"Zhuang","sequence":"first","affiliation":[{"name":"Center for Prenatal Diagnosis Quanzhou Women's and Children's Hospital  Quanzhou Fujian Province China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qi","family":"Luo","sequence":"additional","affiliation":[{"name":"Department of Public Health for Women and Children Quanzhou Women's and Children's Hospital  Quanzhou Fujian China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Meihua","family":"Xie","sequence":"additional","affiliation":[{"name":"Prenatal Diagnosis Center Yueyang Central Hospital  Yueyang China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yu\u2019e","family":"Chen","sequence":"additional","affiliation":[{"name":"Ultrasonography Quanzhou Women's and Children's Hospital  Quanzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuying","family":"Jiang","sequence":"additional","affiliation":[{"name":"Center for Prenatal Diagnosis Quanzhou Women's and Children's Hospital  Quanzhou Fujian Province China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shuhong","family":"Zeng","sequence":"additional","affiliation":[{"name":"Center for Prenatal Diagnosis Quanzhou Women's and Children's Hospital  Quanzhou Fujian Province China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuanbai","family":"Wang","sequence":"additional","affiliation":[{"name":"Center for Prenatal Diagnosis Quanzhou Women's and Children's Hospital  Quanzhou Fujian Province China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yingjun","family":"Xie","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology, Key Laboratory for Major Obstetric Diseases of Guangdong Province The Third Affiliated Hospital of Guangzhou Medical University  Guangzhou PR China"},{"name":"Key Laboratory of Reproduction and Genetics of Guangdong Higher Education Institutes The Third Affiliated Hospital of Guangzhou Medical University  Guangzhou PR China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chunnuan","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Neurology The Second Affiliated Hospital of Fujian Medical University  Quanzhou Fujian Province PR China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2022,12,11]]},"reference":[{"issue":"5","key":"e_1_2_11_2_1","first-page":"443","article-title":"Naevus \u00e9pidermique inflammatoire variable (N.E.V.I.L. atypique? 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