کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
4111845 1606007 2014 6 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Treacher Collins Syndrome: The genetics of a craniofacial disease
موضوعات مرتبط
علوم پزشکی و سلامت پزشکی و دندانپزشکی بیماری های گوش و جراحی پلاستیک صورت
پیش نمایش صفحه اول مقاله
Treacher Collins Syndrome: The genetics of a craniofacial disease
چکیده انگلیسی

ObjectivesThe molecular underpinnings of Treacher Collins Syndrome (TCS) are diverse. This article codifies the most recent findings in this complex area of research to further current understanding of the disease process. Elucidating the genetic causes of the disorder can be useful in earlier detection and better treatment planning.DesignArticles from 1991 to 2013 were selected and reviewed by five researchers utilizing the most recent literature of the genetics and pathophysiology of TCS.ResultsMutations in TCOF1, POLR1C and POLR1D have all been implicated in causing TCS. The association of the TCOF1 gene product, Treacle, and gene products of POLR1C and POLR1D with ribosome biosynthesis suggests that a loss of function mutation in these genes disrupts ribosome biosynthesis in constituent neural crest cells and neuroepithelium leading to apoptosis. However, recent data illustrating that P53 heterozygosity is protective against TCS, and that P53 and TCOF1 hemizygous embryos do not affect ribosomal function, implicates P53 or elements downstream of P53 as playing a role in TCS pathogenesis.ConclusionOur study codified nascent findings of the molecular determinants of TCS. These findings add to a burgeoning database of TCS-associated mutations, and as such, can be used to establish TCS diagnosis and further clarify TCS pathogenesis.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: International Journal of Pediatric Otorhinolaryngology - Volume 78, Issue 6, June 2014, Pages 893–898
نویسندگان
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