{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,19]],"date-time":"2026-08-19T20:00:54Z","timestamp":1787169654323,"version":"build-2736575974"},"reference-count":25,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"1","content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2021,1]]},"abstract":"<jats:sec>\n                    <jats:title\/>\n                    <jats:p>Idiopathic infantile nystagmus (IIN) is an inherited disease, which can occur through a number of different inheritance patterns (autosomal dominant, recessive, or X-linked). The most common of these is X-linked inheritance with incomplete penetrance and variable expressivity, and can also be dominant or recessive. To date, only two mutations have been described: the first, affecting the FPR143 gene, which is associated with ocular albinism type I, and located on chromosome Xp22, and the second, affecting the FRMD7 gene located on chromosome X26-q27. To date, a causative gene on locus Xp11.3p11.4 has not yet been identified. The most common cause of IIN is due to mutations in the FRMD7 gene, located on chromosome Xq26. We present a case of a new mutation found in three siblings from a family with FRMD7-related infantile nystagmus, whose parents are consanguineously related in the first degree. A complex mutation has occurred in this family, which, to date, has not been previously reported in the scientific literature. The complex mutation consists of the presence of three consecutive 1 bp deletions in exon 12 (c.1248delT; 1299del C; and 1312delT), causing a secondary deletion (c. 1340\u20132145 + 214del), and resulting in a truncated protein. We also present a 7-year-old patient from a different family, with periodic alternating nystagmus, having no mutation in the FRMD7 gene, which we assume may be an example of non-FRMD7-related IIN. This patient does not have a family history of nystagmus.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.4103\/1319-4534.325787","type":"journal-article","created":{"date-parts":[[2021,10,20]],"date-time":"2021-10-20T03:10:05Z","timestamp":1634699405000},"page":"61-65","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":2,"title":["A new gene mutation in a family with idiopathic infantile nystagmus"],"prefix":"10.4103","volume":"35","author":[{"given":"Alberto","family":"Galvez-Ruiz","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alicia","family":"Galindo-Ferreiro","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anthony J.","family":"Lehner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","reference":[{"key":"R1-12-20240830","doi-asserted-by":"crossref","first-page":"378","DOI":"10.1097\/00055735-200110000-00010","article-title":"Nystagmus","volume":"12","author":"Gottlob","year":"2001","journal-title":"Curr Opin Ophthalmol"},{"key":"R2-12-20240830","doi-asserted-by":"crossref","first-page":"70","DOI":"10.1016\/S1091-8531(99)70073-X","article-title":"Clinical and ocular motor analysis of congenital nystagmus in infancy","volume":"3","author":"Hertle","year":"1999","journal-title":"J AAPOS"},{"key":"R3-12-20240830","first-page":"647","article-title":"Causes of visual impairment among students at the Alabama School for the Blind","volume":"70","author":"DeCarlo","year":"1999","journal-title":"J Am Optom Assoc"},{"key":"R4-12-20240830","doi-asserted-by":"crossref","first-page":"153","DOI":"10.1007\/BF00159990","article-title":"Waveform characteristics in congenital nystagmus","volume":"64","author":"Abadi","year":"1986","journal-title":"Doc Ophthalmol"},{"key":"R6-12-20240830","first-page":"1834","article-title":"A novel missense mutation in the FERM domain containing 7 (FRMD7) gene causing X-linked idiopathic congenital nystagmus in a Chinese family","volume":"19","author":"Liu","year":"2013","journal-title":"Mol Vis"},{"key":"R7-12-20240830","doi-asserted-by":"crossref","first-page":"600","DOI":"10.1086\/302244","article-title":"Congenital motor nystagmus linked to Xq26-q27","volume":"64","author":"Kerrison","year":"1999","journal-title":"Am J Hum Genet"},{"key":"R8-12-20240830","doi-asserted-by":"crossref","first-page":"479","DOI":"10.1631\/jzus.B1200259","article-title":"Novel mutation c. 980_983delATTA compound with c.986C>A mutation of the FRMD7 gene in a Chinese family with X-linked idiopathic congenital nystagmus","volume":"14","author":"Song","year":"2013","journal-title":"J Zhejiang Univ Sci B"},{"key":"R9-12-20240830","doi-asserted-by":"crossref","first-page":"1141","DOI":"10.1086\/302324","article-title":"A gene for X-linked idiopathic congenital nystagmus (NYS1) maps to chromosome Xp11.4-p11.3","volume":"64","author":"Cabot","year":"1999","journal-title":"Am J Hum Genet"},{"key":"R10-12-20240830","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1038\/ng0595-13","article-title":"Cloning of the gene for ocular albinism type 1 from the distal short arm of the X chromosome","volume":"10","author":"Bassi","year":"1995","journal-title":"Nat Genet"},{"key":"R11-12-20240830","doi-asserted-by":"crossref","first-page":"64","DOI":"10.1016\/S0002-9394(99)80236-0","article-title":"Clinical features of autosomal dominant congenital nystagmus linked to chromosome 6p12","volume":"125","author":"Kerrison","year":"1998","journal-title":"Am J Ophthalmol"},{"key":"R12-12-20240830","doi-asserted-by":"crossref","first-page":"1242","DOI":"10.1038\/ng1893","article-title":"Mutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmus","volume":"38","author":"Tarpey","year":"2006","journal-title":"Nat Genet"},{"key":"R13-12-20240830","first-page":"1674","article-title":"Novel mutations of the FRMD7 gene in X-linked congenital motor nystagmus","volume":"13","author":"Zhang","year":"2007","journal-title":"Mol Vis"},{"key":"R14-12-20240830","doi-asserted-by":"crossref","first-page":"87","DOI":"10.1080\/08820530600614017","article-title":"The molecular genetics of congenital idiopathic nystagmus","volume":"21","author":"Self","year":"2006","journal-title":"Semin Ophthalmol"},{"key":"R15-12-20240830","first-page":"461","article-title":"Investigation of the gene mutations in two Chinese families with X-linked infantile nystagmus","volume":"17","author":"Li","year":"2011","journal-title":"Mol Vis"},{"key":"R16-12-20240830","doi-asserted-by":"crossref","first-page":"4949","DOI":"10.1074\/jbc.M210601200","article-title":"Structure of the active N-terminal domain of Ezrin. 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