Exome sequencing identifies de novo pathogenic variants in FBN1 and TRPS1 in a patient with a complex connective tissue phenotype

Here we describe a patient who presented with a history of congenital diaphragmatic hernia, inguinal hernia, and recurrent umbilical hernia. She also has joint laxity, hypotonia, and dysmorphic features. A unifying diagnosis was not identified based on her clinical phenotype. As part of her evaluati...

Ausführliche Beschreibung

Gespeichert in:
Bibliographische Detailangaben
Veröffentlicht in:Cold Spring Harbor molecular case studies 2017-01, Vol.3 (1), p.a001388-a001388
Hauptverfasser: Zastrow, Diane B, Zornio, Patricia A, Dries, Annika, Kohler, Jennefer, Fernandez, Liliana, Waggott, Daryl, Walkiewicz, Magdalena, Eng, Christine M, Manning, Melanie A, Farrelly, Ellyn, Fisher, Paul G, Ashley, Euan A, Bernstein, Jonathan A, Wheeler, Matthew T
Format: Artikel
Sprache:eng
Schlagworte:
Online-Zugang:Volltext
Tags: Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
Beschreibung
Zusammenfassung:Here we describe a patient who presented with a history of congenital diaphragmatic hernia, inguinal hernia, and recurrent umbilical hernia. She also has joint laxity, hypotonia, and dysmorphic features. A unifying diagnosis was not identified based on her clinical phenotype. As part of her evaluation through the Undiagnosed Diseases Network, trio whole-exome sequencing was performed. Pathogenic variants in and were identified as causing two distinct autosomal dominant conditions, each with de novo inheritance. Fibrillin 1 ( mutations are associated with Marfan syndrome and a spectrum of similar phenotypes. mutations are associated with trichorhinophalangeal syndrome types I and III. Features of both conditions are evident in the patient reported here. Discrepant features of the conditions (e.g., stature) and the young age of the patient may have made a clinical diagnosis more difficult in the absence of exome-wide genetic testing.
ISSN:2373-2873
2373-2865
2373-2873
DOI:10.1101/mcs.a001388