Journal article
Whole exome sequencing combined with linkage analysis identifies a novel 3 bp deletion in NR5A1
S Eggers, KR Smith, M Bahlo, LHJ Looijenga, SLS Drop, ZA Juniarto, VR Harley, P Koopman, SMH Faradz, AH Sinclair
European Journal of Human Genetics | Published : 2015
Abstract
Disorders of sex development (DSDs) encompass a broad spectrum of conditions affecting the development of the gonads and genitalia. The underlying causes for DSDs include gain or loss of function variants in genes responsible for gonad development or steroidogenesis. Most patients with DSD have an unknown genetic etiology and cannot be given an accurate diagnosis. We used whole exome capture and massively parallel sequencing to analyse a large family with 46,XY DSD and 46,XX premature ovarian insufficiency. In addition, we used a recently developed method for linkage analysis using genotypes extracted from the MPS data. This approach identified a unique linkage peak on chromosome 9 and a nov..
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Awarded by Pratt Foundation
Funding Acknowledgements
We thank the family for their participation in this study and the staff at the Center for Biomedical Research in Semarang, Indonesia, for sample and data collection. We thank Craig Smith for critical proof reading of the manuscript and the Ian Potter Centre for Personalised Genomics for use of equipment. This work was supported by the Australian National Health and Medical Research Council (Program grant number 546517 to AS, PK VRH and IRIISS, Program grant number 490037 to MB), the Helen Macpherson Smith Trust (Partnership grant 6846 to AS), the Australian Research Council (Future Fellowship 100100764 to MB), The Pratt Foundation (KRS), The University of Melbourne (MIRS to SE), The Australian Government, Department of Innovation, Industry, Science and Research (IPRS to SE), and the Victorian Government's Operational Infrastructure Support Program.