{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,3]],"date-time":"2026-10-03T13:06:53Z","timestamp":1791032813904,"version":"4.1.0"},"reference-count":18,"publisher":"BMJ","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"accepted":{"date-parts":[[2011,10,28]]},"published-print":{"date-parts":[[2012,1]]},"abstract":"\n Background<\/jats:title>\n Germline mutations in the CHRNG<\/jats:italic> gene that encodes the \u03b3 subunit of the embryonal acetylcholine receptor may cause the non-lethal Escobar variant (EVMPS) or the lethal form (LMPS) of multiple pterygium syndrome (MPS). In addition CHRNG<\/jats:italic> mutations and mutations in other components of the embryonal acetylcholine receptor may present with fetal akinesia deformation sequence (FADS) without pterygia.<\/jats:p>\n <\/jats:sec>\n \n Methods<\/jats:title>\n In order to elucidate further the role of CHRNG<\/jats:italic> mutations in MPS\/FADS, this study evaluated the results of CHRNG<\/jats:italic> mutation analysis in 100 families with a clinical diagnosis of MPS\/FADS.<\/jats:p>\n <\/jats:sec>\n \n Results<\/jats:title>\n \n CHRNG<\/jats:italic> mutations were identified in 11\/41 (27%) of families with EVMPS and 5\/59 (8%) with LMPS\/FADS. Most patients with a detectable CHRNG<\/jats:italic> mutation (21 of 24 (87.5%)) had pterygia but no CHRNG<\/jats:italic> mutations were detected in the presence of central nervous system anomalies.<\/jats:p>\n <\/jats:sec>\n \n Discussion<\/jats:title>\n The mutation spectrum was similar in EVMPS and LMPS\/FADS kindreds and EVMPS and LMPS phenotypes were observed in different families with the same CHRNG<\/jats:italic> mutation. Despite this intrafamilial variability, it is estimated that there is a 95% chance that a subsequent sibling will have the same MPS phenotype (EVMPS or LMPS) as the proband (though concordance is less for more distant relatives). Based on these findings, a molecular genetic diagnostic pathway for the investigation of MPS\/FADS is proposed.<\/jats:p>\n <\/jats:sec>","DOI":"10.1136\/jmedgenet-2011-100378","type":"journal-article","created":{"date-parts":[[2011,12,13]],"date-time":"2011-12-13T14:06:26Z","timestamp":1323785186000},"page":"21-26","source":"Crossref","is-referenced-by-count":42,"title":["CHRNG<\/i> genotype\u2013phenotype correlations in the multiple pterygium syndromes"],"prefix":"10.1136","volume":"49","author":[{"given":"Julie","family":"Vogt","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Neil V","family":"Morgan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pauline","family":"Rehal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laurence","family":"Faivre","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Louise 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Ann","family":"Lynch","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Renaud","family":"Touraine","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Louise C","family":"Wilson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fiona","family":"MacDonald","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eamonn R","family":"Maher","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2011,12,13]]},"reference":[{"key":"2025101715273935000_49.1.21.1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320120404"},{"key":"2025101715273935000_49.1.21.2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.25.2.96"},{"key":"2025101715273935000_49.1.21.3","doi-asserted-by":"crossref","first-page":"2227","DOI":"10.1002\/ajmg.a.31428","article-title":"Familial occurrence of multiple pterygium syndrome: expression in a heterozygote of the recessive form or variability of the dominant form?","volume":"140","author":"Prontera","year":"2006","journal-title":"Am J Med Genet 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