{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,20]],"date-time":"2026-02-20T04:06:33Z","timestamp":1771560393466,"version":"3.50.1"},"reference-count":12,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2006,5,11]],"date-time":"2006-05-11T00:00:00Z","timestamp":1147305600000},"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":[[2006,6,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Coffin\u2013Lowry syndrome (CLS) is an X\u2010linked mental retardation syndrome caused by defects in the <jats:italic>RSK2<\/jats:italic> gene. We have identified a CLS family with four patients in two generations. The patients in this family, a mother and her three children (a male and two females), all have severe mental retardation with the typical CLS phenotype. In addition, brain MRI studies on the three siblings revealed abnormalities in deep subcortical white matter, thinning of the corpus callosum, hypoplastic cerebellar vermis, and asymmetry of the lateral ventricles. The degree of severity of the MRI findings correlated with the severity of mental retardation in the patients. Extensive mutation screening was performed on the entire <jats:italic>RSK2<\/jats:italic> gene in this family. Twenty\u2010two exons including the intron\/exon junctions were amplified by PCR and subsequently sequenced on both strands. A novel mutation, a two\u2010nucleotide insertion (298 ins TG), was identified. The insertion creates a stop codon at codon 100, resulting in a 99 amino acid truncated <jats:italic>RSK2<\/jats:italic> protein. All patients tested have the same mutation, and no other mutation could be found in the <jats:italic>RSK2<\/jats:italic> gene from the proband. The mutation was confirmed by PCR\/RFLP. X\u2010chromosome inactivation assay on the female patients revealed significant skewing toward inactivation of the normal <jats:italic>RSK2<\/jats:italic> allele. Thus, this novel mutation is likely to be responsible for the unusual clinical presentation in this family, which includes full phenotypic expression in females and unique brain MRI abnormalities. The pathological function of the mutation and genotype\/phenotype correlation between the mutation and this unusual clinical presentation await further clarification. \u00a9 2006 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.31266","type":"journal-article","created":{"date-parts":[[2006,5,12]],"date-time":"2006-05-12T03:43:37Z","timestamp":1147405417000},"page":"1274-1279","source":"Crossref","is-referenced-by-count":18,"title":["A novel <i>RSK2<\/i> (<i>RPS6KA3<\/i>) gene mutation associated with abnormal brain MRI findings in a family with Coffin\u2013Lowry syndrome"],"prefix":"10.1002","volume":"140A","author":[{"given":"Yueying","family":"Wang","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jose E.","family":"Martinez","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Glen L.","family":"Wilson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xi\u2010Yu","family":"He","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cathy M.","family":"Tuck\u2010Muller","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paul","family":"Maertens","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wladimir","family":"Wertelecki","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tian\u2010Jian","family":"Chen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2006,5,11]]},"reference":[{"key":"e_1_2_5_2_1","first-page":"1229","article-title":"Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen\u2010receptor gene correlates with X chromosome inactivation","volume":"51","author":"Allen RC","year":"1992","journal-title":"Am J Hum Genet"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/1098-1004(200102)17:2<103::AID-HUMU2>3.0.CO;2-N"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.39.10.705"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.56.2.207"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1086\/302153"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/s100380050038"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/19.19.5444"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1179\/016164103101201355"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1034\/j.1399-0004.2002.610410.x"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1124\/mi.2.6.376"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/11.23.2929"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1086\/340607"}],"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.31266","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.31266","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T23:20:45Z","timestamp":1697671245000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.31266"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2006,5,11]]},"references-count":12,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2006,6,15]]}},"alternative-id":["10.1002\/ajmg.a.31266"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.31266","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2006,5,11]]}}}