{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,30]],"date-time":"2026-10-30T21:20:59Z","timestamp":1793395259652,"version":"4.5.0"},"reference-count":31,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2021,10,7]],"date-time":"2021-10-07T00:00:00Z","timestamp":1633564800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2021,10,7]],"date-time":"2021-10-07T00:00:00Z","timestamp":1633564800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Mol Cytogenet"],"published-print":{"date-parts":[[2021,12]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Nance\u2013Horan syndrome (NHS) is a rare X-linked dominant disorder caused by mutation in the\n                    <jats:italic>NHS<\/jats:italic>\n                    gene on chromosome Xp22.13. (OMIM 302350). Classic NHS manifested in males is characterized by congenital cataracts, dental anomalies, dysmorphic facial features and occasionally intellectual disability. Females typically have a milder presentation. The majority of reported cases of NHS are the result of nonsense mutations and small deletions. Isolated X-linked congenital cataract is caused by non-recurrent rearrangement-associated aberrant\n                    <jats:italic>NHS<\/jats:italic>\n                    transcription. Classic NHS in females associated with gene disruption by balanced X-autosome translocation has been infrequently reported. We present a familial NHS associated with translocation t(X;19) (Xp22.13;q13.1). The proband, a 28-year-old female, presented with intellectual disability, dysmorphic features, short stature, primary amenorrhea, cleft palate, and horseshoe kidney, but no NHS phenotype. A karyotype and chromosome microarray analysis (CMA) revealed partial monosomy Xp\/partial trisomy 19q with the breakpoint at Xp22.13 disrupting the\n                    <jats:italic>NHS<\/jats:italic>\n                    gene. Family history revealed congenital cataracts and glaucoma in the patient\u2019s mother, and congenital cataracts in maternal half-sister and maternal grandmother. The same balanced translocation t(X;19) was subsequently identified in both the mother and maternal half-sister, and further clinical evaluation of the maternal half-sister made a diagnosis of NHS. This study describes the clinical implication of\n                    <jats:italic>NHS<\/jats:italic>\n                    gene disruption due to balanced X-autosome translocations as a unique mechanism causing Nance\u2013Horan syndrome, refines dose effects of\n                    <jats:italic>NHS<\/jats:italic>\n                    on disease presentation and phenotype expressivity, and justifies consideration of karyotype and fluorescence in situ hybridization (FISH) analysis for female patients with familial NHS if single-gene analysis of\n                    <jats:italic>NHS<\/jats:italic>\n                    is negative.\n                  <\/jats:p>","DOI":"10.1186\/s13039-021-00566-x","type":"journal-article","created":{"date-parts":[[2021,10,7]],"date-time":"2021-10-07T07:05:12Z","timestamp":1633590312000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["Allelic and dosage effects of NHS in X-linked cataract and Nance\u2013Horan syndrome: a family study and literature review"],"prefix":"10.1186","volume":"14","author":[{"given":"Caroline","family":"Miller","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Benjamin G.","family":"Gertsen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Audrey L.","family":"Schroeder","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chin-To","family":"Fong","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7552-1703","authenticated-orcid":false,"given":"M. Anwar","family":"Iqbal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1671-402X","authenticated-orcid":false,"given":"Bin","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2021,10,7]]},"reference":[{"issue":"1","key":"566_CR1","doi-asserted-by":"publisher","first-page":"88","DOI":"10.1002\/ajmg.a.37963","volume":"173","author":"H Gj\u00f8rup","year":"2017","unstructured":"Gj\u00f8rup H, et al. Nance\u2013Horan syndrome-the oral perspective on a rare disease. Am J Med Genet A. 2017;173(1):88\u201398.","journal-title":"Am J Med Genet A"},{"issue":"4","key":"566_CR2","first-page":"285","volume":"10","author":"WE Nance","year":"1974","unstructured":"Nance WE, et al. Congenital X-linked cataract, dental anomalies and brachymetacarpalia. 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