{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,14]],"date-time":"2026-03-14T20:02:55Z","timestamp":1773518575289,"version":"3.50.1"},"reference-count":12,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2004,11,18]],"date-time":"2004-11-18T00:00:00Z","timestamp":1100736000000},"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":[[2005,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Congenital stationary night blindness (CSNB) is a group of rare, non\u2010progressive conditions of the retina characterized by abnormal rod function causing impaired night vision. Among them, the Schubert\u2013Bornschein subgroup, itself divided into a complete and an incomplete form, is characterized by a specific electrophysiological pattern. Complete, Schubert\u2013Bornschein CSNB is usually transmitted as a monogenic trait, and most familial cases result from mutations of the <jats:italic>NYX<\/jats:italic> gene located on the X chromosome. We report a very rare family with consanguineous, first\u2010cousin parents, where a son and a daughter are affected with this condition, indicating autosomal recessive inheritance. As the family was too small for genome\u2010wide linkage, we considered several candidate loci, including the sidekick <jats:italic>SDK1<\/jats:italic> and <jats:italic>SDK2<\/jats:italic> genes. The latter determine lamina\u2010specific connectivity in the retina, a histological substrate of the ON pathway implicated in complete, Schubert\u2013Bornschein CSNB. Although linkage was excluded in our family, observations like the present one may lead to the identification of a new molecular cause for this condition. \u00a9 2004 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.30372","type":"journal-article","created":{"date-parts":[[2004,11,19]],"date-time":"2004-11-19T01:16:52Z","timestamp":1100827012000},"page":"76-79","source":"Crossref","is-referenced-by-count":6,"title":["Congenital stationary night blindness: Report of an autosomal recessive family and linkage analysis"],"prefix":"10.1002","volume":"132A","author":[{"given":"Marc J.","family":"Abramowicz","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pascale","family":"Ribai","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Monique","family":"Cordonnier","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2004,11,18]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/81619"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0594-64"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1755-3768.1986.tb06899.x"},{"key":"e_1_2_6_5_1","first-page":"519","article-title":"Rapid multipoint linkage analysis of recessive traits in nuclear families, including homozygosity mapping","volume":"56","author":"Kruglyak L","year":"1995","journal-title":"Am J Hum Genet"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.2884728"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1001\/archopht.1986.01050190071042"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/81627"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/3813"},{"key":"e_1_2_6_10_1","first-page":"429","article-title":"Clinical findings in patients with congenital stationary night blindness of the Schubert\u2013Bornschein type","volume":"2","author":"Ruether K","year":"1993","journal-title":"Ger J Ophthalmol"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/322824a0"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1001\/archopht.1987.01060030080031"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(02)00910-8"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.30372","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.30372","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T19:51:48Z","timestamp":1697658708000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.30372"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2004,11,18]]},"references-count":12,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2005,1]]}},"alternative-id":["10.1002\/ajmg.a.30372"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.30372","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2004,11,18]]}}}