{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,20]],"date-time":"2026-03-20T01:36:45Z","timestamp":1773970605093,"version":"3.50.1"},"reference-count":19,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2009,11,30]],"date-time":"2009-11-30T00:00:00Z","timestamp":1259539200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["The Laryngoscope"],"published-print":{"date-parts":[[2010,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objectives\/Hypothesis:<\/jats:title><jats:p>Analysis of association between genotype and phenotype.<\/jats:p><\/jats:sec><jats:sec><jats:title>Study Design:<\/jats:title><jats:p>Prospective genetic study in a family.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods:<\/jats:title><jats:p>Auditory investigations, computer tomography, and genetic sequencing of the fibroblast growth factor 3 (<jats:italic>FGF3<\/jats:italic>) gene were performed on a Somali family presenting with autosomal recessive, hearing impairment, microdontia, and outer ear morphologies ranging from normal auricle development to microtia assessed as type 1 Weerda dysplasia in affected individuals.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results:<\/jats:title><jats:p>Computed tomography imaging identified differential inter\u2010 and intraindividual malformations of the inner ear including labyrinth aplasia, development of a common cavity to the presence of a cochlear with 1.5 windings (Mondini malformation) in affected individuals, symptoms similar to those described as labyrinth aplasia, microtia, and microdontia (LAMM) syndrome, caused by mutations in <jats:italic>FGF3<\/jats:italic>. Genetic sequencing revealed the presence of a novel p.R95W missense mutation in FGF3 segregating with pathology. The p.R95W mutation substitutes a positively charged arginine for a polar tryptophan in the highly conserved RYLAM consensus of the \u03b26 sheet of FGF3 that interacts with <jats:italic>FGFR2<\/jats:italic>.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions:<\/jats:title><jats:p>These findings describe, for the first time, variable inner ear malformations and outer ear dysplasia in the presence of constant microdontia, associated with homozygous inheritance of the p.R95W mutation in <jats:italic>FGF3<\/jats:italic>, mirroring phenotypes observed in mouse models ablating FGF3\/FGFR2 signaling. Laryngoscope, 2010<\/jats:p><\/jats:sec>","DOI":"10.1002\/lary.20689","type":"journal-article","created":{"date-parts":[[2009,11,30]],"date-time":"2009-11-30T21:08:47Z","timestamp":1259615327000},"page":"359-364","source":"Crossref","is-referenced-by-count":25,"title":["A <i>FGF3<\/i> mutation associated with differential inner ear malformation, microtia, and microdontia"],"prefix":"10.1002","volume":"120","author":[{"given":"Reinhard","family":"Ramsebner","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Martin","family":"Ludwig","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thomas","family":"Parzefall","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Trevor","family":"Lucas","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wolf\u2010Dieter","family":"Baumgartner","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Olaf","family":"Bodamer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Filiz Basak","family":"Cengiz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christian","family":"Schoefer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mustafa","family":"Tekin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Klemens","family":"Frei","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2009,11,30]]},"reference":[{"key":"e_1_2_7_2_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMra050700"},{"key":"e_1_2_7_3_2","doi-asserted-by":"publisher","DOI":"10.1136\/adc.82.3.257"},{"key":"e_1_2_7_4_2","doi-asserted-by":"publisher","DOI":"10.1097\/00005537-200201000-00001"},{"key":"e_1_2_7_5_2","doi-asserted-by":"publisher","DOI":"10.1086\/510920"},{"key":"e_1_2_7_6_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2008.01004.x"},{"key":"e_1_2_7_7_2","doi-asserted-by":"publisher","DOI":"10.1186\/gb-2001-2-3-reviews3005"},{"key":"e_1_2_7_8_2","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2008.141"},{"key":"e_1_2_7_9_2","doi-asserted-by":"publisher","DOI":"10.1002\/j.1460-2075.1988.tb02864.x"},{"key":"e_1_2_7_10_2","doi-asserted-by":"publisher","DOI":"10.1242\/dev.00881"},{"key":"e_1_2_7_11_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ydbio.2007.05.033"},{"key":"e_1_2_7_12_2","doi-asserted-by":"publisher","DOI":"10.1080\/14992020701383019"},{"key":"e_1_2_7_13_2","doi-asserted-by":"publisher","DOI":"10.1126\/scisignal.3146re9"},{"key":"e_1_2_7_14_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0065-230X(08)60821-0"},{"key":"e_1_2_7_15_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.1846048"},{"key":"e_1_2_7_16_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.cytogfr.2005.01.008"},{"key":"e_1_2_7_17_2","doi-asserted-by":"publisher","DOI":"10.1242\/dev.127.3.483"},{"key":"e_1_2_7_18_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0709905104"},{"key":"e_1_2_7_19_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0959-440X(98)80147-4"},{"key":"e_1_2_7_20_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddm204"}],"container-title":["The Laryngoscope"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Flary.20689","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Flary.20689","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/lary.20689","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,21]],"date-time":"2023-11-21T04:45:29Z","timestamp":1700541929000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/lary.20689"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,11,30]]},"references-count":19,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2010,2]]}},"alternative-id":["10.1002\/lary.20689"],"URL":"https:\/\/doi.org\/10.1002\/lary.20689","archive":["Portico"],"relation":{},"ISSN":["0023-852X","1531-4995"],"issn-type":[{"value":"0023-852X","type":"print"},{"value":"1531-4995","type":"electronic"}],"subject":[],"published":{"date-parts":[[2009,11,30]]}}}