Genome Sequencing Identifies the Pathogenic Variant Missed by Prior Testing in an Infant with Marfan Syndrome - 25/09/19
Doi : 10.1016/j.jpeds.2019.05.029
Monica H. Wojcik, MD 1, 2, 3, 4, ⁎ 
, Katri Thiele, BS 1, 3, Carly F. Grant, MS 2, 5, Katherine Chao, BS 4, Julia Goodrich, PhD 4, Anne O'Donnell-Luria, MD, PhD 2, 3, 4, Ronald V. Lacro, MD 6, Wen-Hann Tan, BMBS 2, ∗, Pankaj B. Agrawal, MD, MMSc 1, 2, 3, 4, ∗
, Katri Thiele, BS 1, 3, Carly F. Grant, MS 2, 5, Katherine Chao, BS 4, Julia Goodrich, PhD 4, Anne O'Donnell-Luria, MD, PhD 2, 3, 4, Ronald V. Lacro, MD 6, Wen-Hann Tan, BMBS 2, ∗, Pankaj B. Agrawal, MD, MMSc 1, 2, 3, 4, ∗ 1 Division of Newborn Medicine, Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA
2 Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA
3 The Manton Center for Orphan Disease Research, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA
4 The Broad Institute of MIT and Harvard, Cambridge, MA, USA
5 Massachusetts General Hospital-Center for Cancer Risk Assessment, Boston, MA, USA
6 Department of Cardiology, Boston Children's Hospital and Department of Pediatrics, Harvard Medical School, Boston, MA, USA
∗Reprint requests: Monica H. Wojcik, MD, 300 Longwood Ave, Enders 961, Boston, MA 02115.300 Longwood AveEnders 961BostonMA02115
Abstract |
We describe an infant with a phenotype typical of early onset Marfan syndrome whose genetic evaluation, including Sanger sequencing and deletion/duplication testing of FBN1 and exome sequencing, was negative. Ultimately, genome sequencing revealed a deletion missed on prior testing, demonstrating the unique utility of genome sequencing for molecular genetic diagnosis.
Le texte complet de cet article est disponible en PDF.Keywords : deletion, genetic, FBN1, fibrillin
Abbreviations : CNV, FBN1, PCR, MLPA
Plan
| Supported by the National Institutes of Health (NIH T32 GM007748 [to M.W.], NIH/NICHD (National Institute of Child Health and Human Development) (K12 HD052896 [to A.L.]), NIH/NIAMS (National Institute of Arthritis and Musculoskeletal and Skin Diseases) (1R01AR068429-01 [to P.A.]), and NICHD/NHGRI (National Human Genome Research Institute)/NIH (U19HD077671 [to P.A.]). Additional support provided by Boston Children's Hospital/Harvard Medical School and the Brody School of Medicine at East Carolina University (to K.T.). Sequencing and analysis were provided by the Broad Institute of MIT and Harvard Center for Mendelian Genomics (Broad CMG) and was funded by the National Human Genome Research Institute, the National Eye Institute, and the National Heart, Lung, and Blood Institute (UM1 HG008900 to Daniel MacArthur and Heidi Rehm). The authors declare no conflicts of interest. |
© 2019
Elsevier Inc. Tous droits réservés.
Vol 213
P. 235-240 - octobre 2019 Retour au numéro
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