Browsing by Subject "jaws"

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    Whole Exome Sequencing Identifies Candidate Genes For Autosomal Dominant Mesomandibular Fibro-Osseous Dysplasia (Admfod), A Self-Resolving Inherited Fibro-Osseous Lesion Of The Jaws, Unrelated To Fibrous Dysplasia
    (2015-08) Karadimitriou, Sofia
    Autosomal dominant mesomandibular fibro-ossseous dysplasia (ADMFOD) is an inherited fibro-osseous condition that affects the mandible and is apparently self-limiting or self-resolving (Koutlas et al., 2012). Two family members, the propositus and his sister, were initially reported by El Deeb et al. as having congenital monostotic fibrous dysplasia (El Deeb et al., 1979). This publication is a follow-up on that family whereby we performed whole exome sequencing on five affected family members in order to identify possible causative gene candidates. We identified seventeen candidate genes and based on either function or association with conditions exhibiting some phenotypic similarities to ADMFOD genes three, ZSWIM6 (chr.5), CTBP2 (chr.10), and CDKN1C (chr.11) were selected as our best choices. Our results do not support a relation of ADMFOD to fibrous dysplasia since there was no evidence of a GNAS mutation. However, we have three other appropriate models under investigation to identify the causative gene and more importantly to elucidate the pathogenesis as well as the mechanism for resolution of these lesions.