{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,12]],"date-time":"2026-09-12T00:42:53Z","timestamp":1789173773708,"version":"build-2803163510"},"reference-count":15,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2015,4,21]],"date-time":"2015-04-21T00:00:00Z","timestamp":1429574400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2015,6]]},"abstract":"<jats:sec><jats:label\/><jats:p>The <jats:italic>NSDHL<\/jats:italic> gene encodes 3\u03b2\u2010hydroxysteroid dehydrogenase involved in one of the later steps of the cholesterol biosynthetic pathway. Mutations in this gene can cause CHILD syndrome (OMIM 308050) and CK syndrome (OMIM 300831). CHILD syndrome is an X\u2010linked dominant, male lethal disorder caused by mutations in the <jats:italic>NSDHL<\/jats:italic> gene that result in the loss of the function of the NSDHL protein. CK syndrome is an allelic X\u2010linked recessive disorder. So far, 13 patients with CK syndrome from two families have been reported on. We present a new five\u2010generation family with affected males manifesting clinical features of CK syndrome. Next generation sequencing was targeted to a custom panel of 542 genes with known or putative implication on intellectual disability. Missense mutation p.Gly152Asp was identified in the <jats:italic>NSDHL<\/jats:italic> gene in the DNA sample of the affected male. Mutation carrier status was confirmed for all the obligate carriers in the family. The clinical features of the affected males in the family manifested as weak fetal movements, severe intellectual disability, seizures, spasticity, atrophy of optic discs, microcephaly, plagiocephaly, skeletal abnormalities, and minor facial anomalies, including a high nasal bridge, strabismus, and micrognathia. A highly significant preferential transmission of the mutation was observed in this and previous families segregating CK syndrome. Our report expands the clinical spectrum of this syndrome to include weak fetal movements, spasticity, and plagiocephaly, and transmission ratio distortion. The various findings in these patients increase our understanding of the diversity of the clinical presentation of cholesterol biosynthesis disorders. \u00a9 2015 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36999","type":"journal-article","created":{"date-parts":[[2015,4,22]],"date-time":"2015-04-22T03:55:21Z","timestamp":1429674921000},"page":"1342-1348","source":"Crossref","is-referenced-by-count":9,"title":["A novel missense mutation in the <i>NSDHL<\/i> gene identified in a Lithuanian family by targeted next\u2010generation sequencing causes CK syndrome"],"prefix":"10.1002","volume":"167","author":[{"given":"Egle","family":"Preiksaitiene","sequence":"first","affiliation":[{"name":"Department of Human and Medical Genetics Faculty of Medicine Vilnius University Vilnius Lithuania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alfonso","family":"Caro","sequence":"additional","affiliation":[{"name":"Unidad de Gen\u00e9tica Grupo de Investigaci\u00f3n Traslacional en Gen\u00e9tica Hospital Universitario y Polit\u00e9cnico La Fe Valencia Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Egl\u0117","family":"Benu\u0161ien\u0117","sequence":"additional","affiliation":[{"name":"Department of Human and Medical Genetics Faculty of Medicine Vilnius University Vilnius Lithuania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Silvestre","family":"Oltra","sequence":"additional","affiliation":[{"name":"Unidad de Gen\u00e9tica Grupo de Investigaci\u00f3n Traslacional en Gen\u00e9tica Hospital Universitario y Polit\u00e9cnico La Fe Valencia Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carmen","family":"Orellana","sequence":"additional","affiliation":[{"name":"Unidad de Gen\u00e9tica Grupo de Investigaci\u00f3n Traslacional en Gen\u00e9tica Hospital Universitario y Polit\u00e9cnico La Fe Valencia 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