{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,17]],"date-time":"2026-06-17T02:12:46Z","timestamp":1781662366520,"version":"3.54.5"},"reference-count":32,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2022,11,12]],"date-time":"2022-11-12T00:00:00Z","timestamp":1668211200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2023,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Nance\u2013Horan syndrome (NHS) is a rare and often overlooked X\u2010linked dominant disorder characterized by dense congenital cataracts, dental abnormalities, and mental retardation. The majority of NHS variations include frameshift mutations, nonsense mutations, microdeletions, and insertions.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Copy number variation sequencing was performed to determine the microdeletion. The expression of <jats:italic>NHS<\/jats:italic> was detected by RT\u2010PCR. Four family members were tested for X chromosome inactivation.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>In this study, all members were examined for systemic examinations and genetic testing of four members and two affected subjects are observed. We identified a heterozygous microdeletion of \u22120.52\u2009Mb at Xp22.13 in a female proband presenting NHS phenotypically. The microdeletion contains the <jats:italic>REPS2<\/jats:italic> and <jats:italic>NHS<\/jats:italic> genes and was inherited from a phenotypically normal mother. Of interest, the expression <jats:italic>NHS<\/jats:italic> of proband was reduced and the skewed X chromosome inactivation rate reached more than 85% compared with her mother and the control. It was concluded that the haploinsufficiency of the <jats:italic>NHS<\/jats:italic> gene may account for the majority of clinical symptoms in the affected subjects. The variability among female carriers presumably results from nonrandom X chromosome inactivation.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Our findings broaden the spectrum of <jats:italic>NHS<\/jats:italic> mutations and provide molecular insight into NHS clinical prenatal genetic diagnosis.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.2100","type":"journal-article","created":{"date-parts":[[2022,11,12]],"date-time":"2022-11-12T11:56:47Z","timestamp":1668254207000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["Nance\u2013Horan syndrome pedigree due to a novel microdeletion and skewed X chromosome inactivation"],"prefix":"10.1002","volume":"11","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4355-9395","authenticated-orcid":false,"given":"Yazhou","family":"Huang","sequence":"first","affiliation":[{"name":"Department of Medical Genetics Changde First People's Hospital  Changde 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