{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T07:40:19Z","timestamp":1791099619089,"version":"4.1.0"},"reference-count":39,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2011,7,18]],"date-time":"2011-07-18T00:00:00Z","timestamp":1310947200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2012,8]]},"abstract":"<jats:p>Akawi NA, Al\u2010Gazali L, Ali BR. Clinical and molecular analysis of UAE fibrochondrogenesis patients expands the phenotype and reveals two <jats:italic>COL11A1<\/jats:italic> homozygous null mutations.<\/jats:p><jats:p>Fibrochondrogenesis is documented to be a neonatally lethal rare recessively inherited disorder characterized by short\u2010limbed skeletal dysplasia. Here we report two patients from two unrelated consanguineous Emirati families who have unexpectedly survived till the ages of 3 and 6 years. These patients show additional symptoms which include developmental delay, profound sensory\u2013neural deafness, severe myopia and progressive severe skeletal abnormalities. Linkage of fibrochondrogenesis in the Emirati families to chromosome 1 has been established using homozygosity mapping confirming recent findings by Tompson et al. in 2010. Screening of the <jats:italic>COL11A1<\/jats:italic> gene revealed two null homozygous mutations [c.4084C&gt;T (p.R1362X) and c.3708+437T&gt;G] in the aforementioned two families. The c.4084C&gt;T mutation is predicted to introduce a stop codon at position Arg1362, whereas the c.3708+437T&gt;G mutation causes the activation of an intronic pseudoexon between exons 48 and 49. This resulted in the insertion of 50 nucleotides into the mRNA. The carriers of these mutations display ocular defects with normal hearing. In conclusion, our data shall improve the overall understanding of fibrochondrogenesis especially in surviving homozygous patients and, at least partly, explain the phenotypic variability associated with <jats:italic>COL11A1<\/jats:italic> gene mutations.<\/jats:p>","DOI":"10.1111\/j.1399-0004.2011.01734.x","type":"journal-article","created":{"date-parts":[[2011,6,14]],"date-time":"2011-06-14T04:45:17Z","timestamp":1308026717000},"page":"147-156","source":"Crossref","is-referenced-by-count":21,"title":["Clinical and molecular analysis of UAE fibrochondrogenesis patients expands the phenotype and reveals two <i>COL11A1<\/i> homozygous null mutations"],"prefix":"10.1111","volume":"82","author":[{"given":"NA","family":"Akawi","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L","family":"Al\u2010Gazali","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"BR","family":"Ali","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2011,7,18]]},"reference":[{"issue":"10","key":"e_1_2_7_2_2","first-page":"1096","article-title":"Fibrochondrogenesis.","volume":"35","author":"Lazzaroni\u2010Fossati F","year":"1978","journal-title":"Arch Fr Pediatr"},{"key":"e_1_2_7_3_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320190210"},{"key":"e_1_2_7_4_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.33.5.429"},{"key":"e_1_2_7_5_2","doi-asserted-by":"publisher","DOI":"10.1055\/s-2000-3795"},{"key":"e_1_2_7_6_2","doi-asserted-by":"publisher","DOI":"10.1002\/pd.423"},{"key":"e_1_2_7_7_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20620"},{"key":"e_1_2_7_8_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF02724021"},{"key":"e_1_2_7_9_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.10.009"},{"key":"e_1_2_7_10_2","doi-asserted-by":"publisher","DOI":"10.1002\/bdra.10009"},{"key":"e_1_2_7_11_2","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-199704000-00009"},{"key":"e_1_2_7_12_2","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-199901000-00011"},{"key":"e_1_2_7_13_2","doi-asserted-by":"publisher","DOI":"10.1007\/s001090050217"},{"key":"e_1_2_7_14_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ceb.2008.06.008"},{"key":"e_1_2_7_15_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.matbio.2007.06.007"},{"key":"e_1_2_7_16_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0945-053X(05)80001-0"},{"key":"e_1_2_7_17_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0608417103"},{"key":"e_1_2_7_18_2","doi-asserted-by":"publisher","DOI":"10.1110\/ps.051363105"},{"key":"e_1_2_7_19_2","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M409622200"},{"key":"e_1_2_7_20_2","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.275.14.10370"},{"key":"e_1_2_7_21_2","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19981102)80:2<115::AID-AJMG5>3.0.CO;2-O"},{"key":"e_1_2_7_22_2","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(95)90492-1"},{"key":"e_1_2_7_23_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.joca.2003.12.002"},{"key":"e_1_2_7_24_2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20347"},{"key":"e_1_2_7_25_2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21257"},{"key":"e_1_2_7_26_2","doi-asserted-by":"publisher","DOI":"10.1086\/301789"},{"key":"e_1_2_7_27_2","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkl498"},{"issue":"8","key":"e_1_2_7_28_2","first-page":"1182","article-title":"Genetic basis for skeletal disease. 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