{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,26]],"date-time":"2026-02-26T08:11:00Z","timestamp":1772093460344,"version":"3.50.1"},"reference-count":31,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2016,6,20]],"date-time":"2016-06-20T00:00:00Z","timestamp":1466380800000},"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":[[2016,10]]},"abstract":"<jats:sec><jats:label\/><jats:p>We present a 5\u2010year\u2010old female with a distinctive phenotype comprising global developmental delays, pre\u2010 and post\u2010natal growth restriction, striking joint laxity with soft skin, and scoliosis. She had a triangular facies, a prominent forehead, proptosis, a small nose, and a small jaw. Her ocular findings included corneal clouding, colobomas of the iris and optic nerve, and posterior subcapsular cataracts. Exome sequencing identified homozygosity for c.970T&gt;A, predicting p.(Cys324Ser), in the xylosylprotein 4\u2010beta\u2010galactosyltransferase, polypeptide 7 (<jats:italic>B4GALT7<\/jats:italic>) gene. Variant segregation was consistent with autosomal recessive inheritance and the missense substitution was predicted to be pathogenic. As the phenotype of this child is consistent with that described in other \u201clinkeropathy\u201d syndromes, we conclude that p.(Cys324Ser) is likely to be disease\u2010causing. The eye features were a notable part of this child's presentation and mutations in the linkeropathy genes (<jats:italic>XYLT1<\/jats:italic>,<jats:italic>XYLT2<\/jats:italic>,<jats:italic>B4GALT7<\/jats:italic>,<jats:italic>B3GALT6<\/jats:italic>, and<jats:italic>B3GAT3<\/jats:italic>) can be associated with ocular findings, including blue sclerae, refractive errors, corneal clouding, strabismus, nystagmus, cataracts, glaucoma, and retinal abnormalities, including retinal detachment. The corneal clouding and cataracts in this patient may thus have been caused by her<jats:italic>B4GALT7<\/jats:italic>mutation, but the colobomas are a novel phenotypic finding. However, a different genetic etiology or a role for modifying genetic factors has not been excluded in the etiology of her colobomas. \u00a9 2016 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37809","type":"journal-article","created":{"date-parts":[[2016,6,20]],"date-time":"2016-06-20T05:33:48Z","timestamp":1466400828000},"page":"2711-2718","source":"Crossref","is-referenced-by-count":23,"title":["Corneal clouding, cataract, and colobomas with a novel missense mutation in<i>B4GALT7<\/i>\u2014a review of eye anomalies in the linkeropathy syndromes"],"prefix":"10.1002","volume":"170","author":[{"given":"Teda","family":"Arunrut","sequence":"first","affiliation":[{"name":"Division of Genetics Department of Pediatrics University of California San Francisco California"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marta","family":"Sabbadini","sequence":"additional","affiliation":[{"name":"Division of Genetics Department of Pediatrics University of 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