Search

Your search keyword '"Jenny Carmichael"' showing total 3 results
Start Over Author "Jenny Carmichael" Publisher wiley
3 results on '"Jenny Carmichael"'

1. <scp>POU3F3</scp> ‐related disorder: Defining the phenotype and expanding the molecular spectrum

Author

Alessandra Rossi, Lot Snijders Blok, Sonja Neuser, Chiara Klöckner, Konrad Platzer, Laurence Olivier Faivre, Heike Weigand, Maria L. Dentici, Marco Tartaglia, Marcello Niceta, Paolo Alfieri, Siddharth Srivastava, David Coulter, Lacey Smith, Kristin Vinorum, Gerarda Cappuccio, Nicola Brunetti‐Pierri, Deniz Torun, Mutluay Arslan, Mathilde F. Lauridsen, Oliver Murch, Rachel Irving, Sally A. Lynch, Sarju G. Mehta, Jenny Carmichael, Evelien Zonneveld‐Huijssoon, Bert de Vries, Tjitske Kleefstra, Katrine M. Johannesen, Ian T. Westphall, Susan S. Hughes, Sarah Smithson, Julie Evans, Tracy Dudding‐Byth, Marleen Simon, Ellen van Binsbergen, Johanna C. Herkert, Gea Beunders, Henry Oppermann, Mert Bakal, Rikke S. Møller, Guido Rubboli, and Allan Bayat

Subjects
Genetics, Genetics (clinical)
Published
2023
Full Text
View/download PDF

3. Diagnosis of lethal or prenatal-onset autosomal recessive disorders by parental exome sequencing

Author

Jenny Carmichael, Emma Kivuva, Andrew E. Fry, Ravi Savarirayan, Charu Deshpande, Deirdre Cilliers, Angela F. Brady, Jacqueline Eason, Andrew Parrish, Emma L. Baple, Karen Stals, Emma Wakeling, Richard Caswell, Ruth Newbury-Ecob, Lisa Bradley, Victoria McKay, Garan Jones, Hana Lango Allen, Abhijit Dixit, Ellen Thomas, Peter D. Turnpenny, Carolyn Tysoe, Bruce Castle, Vinod Varghese, Matthew Wakeling, Adam C. Gunning, Helen Cox, Michael W. Parker, Muriel Holder, Alan Fryer, Helena Carley, Nora Shannon, Frances Elmslie, Deborah J. Shears, Sarah F. Smithson, Sian Ellard, Julia Rankin, Claire Searle, Julia Baptista, Tessa Homfray, and Pradeep Vasudevan

Subjects
0301 basic medicine, Genetics, Pregnancy, Fetus, Genetic heterogeneity, Obstetrics and Gynecology, Prenatal diagnosis, 030105 genetics & heredity, Biology, medicine.disease, Bioinformatics, Phenotype, 3. Good health, 03 medical and health sciences, 030104 developmental biology, medicine, Gene, Exome, Genetics (clinical), Exome sequencing
Abstract

Objective Rare genetic disorders resulting in prenatal or neonatal death are genetically heterogeneous, but testing is often limited by the availability of fetal DNA, leaving couples without a potential prenatal test for future pregnancies. We describe our novel strategy of exome sequencing parental DNA samples to diagnose recessive monogenic disorders in an audit of the first 50 couples referred. Method Exome sequencing was carried out in a consecutive series of 50 couples who had 1 or more pregnancies affected with a lethal or prenatal-onset disorder. In all cases, there was insufficient DNA for exome sequencing of the affected fetus. Heterozygous rare variants (MAF < 0.001) in the same gene in both parents were selected for analysis. Likely, disease-causing variants were tested in fetal DNA to confirm co-segregation. Results Parental exome analysis identified heterozygous pathogenic (or likely pathogenic) variants in 24 different genes in 26/50 couples (52%). Where 2 or more fetuses were affected, a genetic diagnosis was obtained in 18/29 cases (62%). In most cases, the clinical features were typical of the disorder, but in others, they result from a hypomorphic variant or represent the most severe form of a variable phenotypic spectrum. Conclusion We conclude that exome sequencing of parental samples is a powerful strategy with high clinical utility for the genetic diagnosis of lethal or prenatal-onset recessive disorders. © 2017 The Authors Prenatal Diagnosis published by John Wiley & Sons Ltd.

Published
2017
Full Text
View/download PDF

Catalog

Books, media, physical & digital resources
See catalog results