Parboosingh, Jillian S.Loucks, Catrina Marie2017-12-182017-12-182012Loucks, C. M. (2012). Unraveling the genetic complexity of ciliopathies in the Hutterite population (Master's thesis, University of Calgary, Calgary, Canada). Retrieved from https://prism.ucalgary.ca. doi:10.11575/PRISM/4627http://hdl.handle.net/1880/105628Bibliography: p. 88-93Some pages are in colour.Includes copy of ethics approval. Original copy with original Partial Copyright Licence.Ciliopathies are a group of genetically heterogeneous disorders with overlapping clinical manifestations and causative genes localizing to the nonmotile cilium. Many ciliopathies are present in the genetically isolated Hutterite population. This work was initiated to identify the remaining unknown ciliopathy mutations within the population, and four additional ciliopathy mutations were found. Some Hutterite nephronophthisis patients were compound heterozygous for a c.1918delA variant in NP HP 1 and the common NP HP 1 deletion, and one patient without NP HP 1 mutations was homozygous for a c.3936_3937insAC variant in KIAAJ009. Cranioectodermal dysplasia patients in the Hutterites were homozygous for a c.17T>A variant in DPHJ, and Joubert syndrome related disorder patients without homozygous TMEM237 mutations were homozygous for a c.363 _364delT A variant in CSP P 1. Identifying the causative mutations for ciliopathies in the Hutterites allows for diagnostic testing within the population and furthers our understanding of the complexity of ciliopathies in both the Hutterites and the general populationx, 93 leaves : ill. ; 30 cm.engUniversity of Calgary graduate students retain copyright ownership and moral rights for their thesis. You may use this material in any way that is permitted by the Copyright Act or through licensing that has been assigned to the document. For uses that are not allowable under copyright legislation or licensing, you are required to seek permission.master thesis10.11575/PRISM/4627