{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,8]],"date-time":"2026-02-08T18:00:10Z","timestamp":1770573610386,"version":"3.49.0"},"reference-count":20,"publisher":"Cold Spring Harbor Laboratory","issue":"6","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cold Spring Harb Mol Case Stud"],"published-print":{"date-parts":[[2019,12]]},"abstract":"<jats:p>Whole-exome sequencing was used to identify the genetic etiology of a rapidly progressing neurological disease present in two of six siblings with early childhood onset of severe progressive spastic paraparesis and learning disabilities. A homozygous mutation (c.2005G&gt;T, p, V669L) was found in <jats:italic>VAC14<\/jats:italic>, and the clinical phenotype is consistent with the recently described <jats:italic>VAC14<\/jats:italic>-related striatonigral degeneration, childhood-onset syndrome (SNDC) (MIM#617054). However, the phenotype includes a distinct clinical presentation of retinitis pigmentosa (RP), which has not previously been reported in association with <jats:italic>VAC14<\/jats:italic> mutations. Brain magnetic resonance imaging (MRI) revealed abnormal magnetic susceptibility in the globus pallidus, which can be seen in neurodegeneration with brain iron accumulation (NBIA). RP is a group of inherited retinal diseases with phenotypic\/genetic heterogeneity, and the pathophysiologic basis of RP is not completely understood but is thought to be due to a primary retinal photoreceptor cell degenerative process. Most cases of RP are seen in isolation (nonsyndromic); this is a report of RP in two siblings with <jats:italic>VAC14<\/jats:italic>-associated syndrome, and it is suggested that a connection between RP and <jats:italic>VAC14<\/jats:italic>-associated syndrome should be explored in future studies.<\/jats:p>","DOI":"10.1101\/mcs.a003715","type":"journal-article","created":{"date-parts":[[2019,8,6]],"date-time":"2019-08-06T20:25:20Z","timestamp":1565123120000},"page":"a003715","source":"Crossref","is-referenced-by-count":13,"title":["<i>VAC14<\/i> syndrome in two siblings with retinitis pigmentosa and neurodegeneration with brain iron accumulation"],"prefix":"10.1101","volume":"5","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5869-0716","authenticated-orcid":false,"given":"Gholson J.","family":"Lyon","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elaine","family":"Marchi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joseph","family":"Ekstein","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vardiella","family":"Meiner","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yoel","family":"Hirsch","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sholem","family":"Scher","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Edward","family":"Yang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Darryl C.","family":"De Vivo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ricardo","family":"Madrid","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Quan","family":"Li","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kai","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andrea","family":"Haworth","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ilana","family":"Chilton","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wendy K.","family":"Chung","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Milen","family":"Velinov","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"246","published-online":{"date-parts":[[2019,8,6]]},"reference":[{"key":"2021112506191556000_5.6.a003715.1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M113.453712"},{"key":"2021112506191556000_5.6.a003715.2","doi-asserted-by":"publisher","DOI":"10.4103\/1673-5374.251203"},{"key":"2021112506191556000_5.6.a003715.3","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejpn.2018.01.008"},{"key":"2021112506191556000_5.6.a003715.4","unstructured":"Garrison E , Marth G . 2012. 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