{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,9,15]],"date-time":"2024-09-15T12:51:57Z","timestamp":1726404717218},"reference-count":11,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2006,4,4]],"date-time":"2006-04-04T00:00:00Z","timestamp":1144108800000},"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":[[2006,5,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Frontometaphyseal dysplasia (FMD) belongs to a group of overlapping skeletal dysplasias, the common molecular basis of which are mutations of <jats:italic>FLNA<\/jats:italic>, the gene encoding filamin A. The nature of the mutation has been considered the major determinant of the phenotype within this group that comprises the otopalatodigital syndromes (OPD1, OPD2) and Melnick\u2013Needles syndrome besides FMD. However, to date the molecular pathomechanisms are not well understood. In FMD only few <jats:italic>FLNA<\/jats:italic> mutations have been reported which do not cluster in a specific region of the protein. We report on a novel de novo mutation 5182G\u2009\u2192\u2009T in exon 31 of the <jats:italic>FLNA<\/jats:italic> gene in a girl with manifestations of FMD and OPD1. This mutation is predicted to lead to the exchange of a highly conserved glycine residue at position 1,728 by cysteine (G1728C) in repeat 15 of the filamin A rod domain. In a second family with FMD, we identified a known mutation (S1186L) in a mother and her son. In contrast to most previous reports on manifesting females or carriers of the <jats:italic>FLNA<\/jats:italic>\u2010related skeletal dysplasias, the affected females presented here showed only mild to moderate skewing of X\u2010inactivation against the mutant allele. Our data may indicate that in females, genotype\u2013phenotype correlation between certain <jats:italic>FLNA<\/jats:italic> mutations and OPD1 and FMD, respectively, is less strict than previously assumed. We propose that X\u2010inactivation is an important epigenetic modifier of the phenotype in females with the <jats:italic>FLNA<\/jats:italic>\u2010related skeletal dysplasias. \u00a9 2006 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.31213","type":"journal-article","created":{"date-parts":[[2006,4,5]],"date-time":"2006-04-05T03:46:40Z","timestamp":1144208800000},"page":"1069-1073","source":"Crossref","is-referenced-by-count":14,"title":["Genotype\u2013epigenotype\u2013phenotype correlations in females with frontometaphyseal dysplasia"],"prefix":"10.1002","volume":"140A","author":[{"given":"Martin","family":"Zenker","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lutz","family":"N\u00e4hrlich","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Heinrich","family":"Sticht","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andr\u00e9","family":"Reis","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Denise","family":"Horn","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2006,4,4]]},"reference":[{"key":"e_1_2_7_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"},{"doi-asserted-by":"publisher","key":"e_1_2_7_3_1","DOI":"10.1097\/00004728-199703000-00009"},{"doi-asserted-by":"publisher","key":"e_1_2_7_4_1","DOI":"10.1002\/ajmg.a.30396"},{"doi-asserted-by":"publisher","key":"e_1_2_7_5_1","DOI":"10.1097\/01.mcd.0000130235.95356.40"},{"doi-asserted-by":"publisher","key":"e_1_2_7_6_1","DOI":"10.1016\/j.gde.2005.04.001"},{"doi-asserted-by":"publisher","key":"e_1_2_7_7_1","DOI":"10.1038\/ng1119"},{"doi-asserted-by":"publisher","key":"e_1_2_7_8_1","DOI":"10.1002\/ajmg.a.30484"},{"doi-asserted-by":"publisher","key":"e_1_2_7_9_1","DOI":"10.1002\/1096-8628(20001106)95:1<86::AID-AJMG19>3.0.CO;2-3"},{"key":"e_1_2_7_10_1","first-page":"2","article-title":"Fronto\u2010metaphyseal dysplasia and the otopalatodigital syndrome","volume":"1","author":"Superti\u2010Furga A","year":"1987","journal-title":"Dysmorphol Clin Genet"},{"doi-asserted-by":"publisher","key":"e_1_2_7_11_1","DOI":"10.1002\/(SICI)1096-8628(20000228)90:5<407::AID-AJMG11>3.0.CO;2-D"},{"doi-asserted-by":"publisher","key":"e_1_2_7_12_1","DOI":"10.1086\/383094"}],"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.31213","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.31213","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,12]],"date-time":"2023-10-12T09:22:14Z","timestamp":1697102534000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.31213"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2006,4,4]]},"references-count":11,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2006,5,15]]}},"alternative-id":["10.1002\/ajmg.a.31213"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.31213","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"type":"print","value":"1552-4825"},{"type":"electronic","value":"1552-4833"}],"subject":[],"published":{"date-parts":[[2006,4,4]]}}}