Clinical and Molecular Characterisation of Children with Pierre Robin Sequence and Additional Anomalies
Jessie X Xu, Nicky Kilpatrick, Naomi L Baker, Anthony Penington, Peter G Farlie, Tiong Yang Tan
MOLECULAR SYNDROMOLOGY | KARGER | Published : 2016
Pierre Robin Sequence (PRS) is usually classified into syndromic and nonsyndromic groups, with a further subclassification of the nonsyndromic group into isolated PRS and PRS with additional anomalies (PRS-Plus). The aim of this research is to provide an accurate phenotypic characterisation of nonsyndromic PRS, specifically the PRS-Plus subgroup. We sought to examine the frequency of sequence variants in previously defined conserved noncoding elements (CNEs) in the putative enhancer region upstream of SOX9, the regulation of which has been associated with PRS phenotypes. We identified 141 children with nonsyndromic PRS at the Royal Children's Hospital, Melbourne from 1985 to 2012 using 2 dat..View full abstract
Awarded by Australian National Health and Medical Research Council Overseas Post-doctoral Training Scholarship
We are grateful to the children and families who participated in this research. We also thank Sue Poynton for assistance with the RCH cleft registry, David Blake for assistance with the VCGS database, and Supriya Raj for assistance with patient recruitment and ethics submissions. The Victorian Government's Operational Infrastructure Support Program supported this work. The Australian National Health and Medical Research Council Overseas Post-doctoral Training Scholarship (#607431) supported T.Y.T, and J.X.X. was supported by a University of Melbourne scholarship and submitted this work in fulfilment of the requirements for the degree of Master of Surgery (University of Melbourne).