| Autor: |
Grimes, Hannah L., Holden, Simon, Babar, Judith, Karia, Sumit, Wetscherek, Maria T. A., Barker, Allanah, Herre, Jurgen, Knolle, Martin D., Maher, Eamonn R., Marciniak, Stefan John, Wetscherek, Maria Ta, Genomics England Research Consortium |
| Předmět: |
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| Zdroj: |
Thorax; Feb2022, Vol. 77 Issue 2, p196-198, 3p |
| Abstrakt: |
Familial spontaneous pneumothorax (FSP) accounts for 10% of primary spontaneous pneumothoraces. Appropriate investigation of FSP enables early diagnosis of serious monogenic diseases and the practice of precision medicine. Here, we show that a pneumothorax genetics multidisciplinary team (MDT) can efficiently diagnose a range of syndromic causes of FSP. A sizeable group (73.6%) of clinically unclassifiable FSPs remains. Using whole genome sequencing we demonstrate that most of these cases are not known monogenic disorders. Therefore, clinico-radiological assessment by an MDT has high sensitivity for currently known clinically important monogenic causes of FSP, which has relevance for the design of efficient pneumothorax services. [ABSTRACT FROM AUTHOR] |
| Databáze: |
Complementary Index |
| Externí odkaz: |
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