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...
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Veröffentlicht in: | Cold Spring Harbor molecular case studies 2017-01, Vol.3 (1), p.a001388-a001388 |
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Format: | Artikel |
Sprache: | eng |
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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. |
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ISSN: | 2373-2873 2373-2865 2373-2873 |
DOI: | 10.1101/mcs.a001388 |