Challenges in classification of novel CFH variants in patients with atypical hemolytic uremic syndrome
Atypical hemolytic uremic syndrome (aHUS) is a thrombotic microangiopathy (TMA) characterized by dysregulation of the alternative pathway of complement. Heterozygous variants in complement and complement regulatory proteins may increase risk for aHUS and, to date, the highest frequency of disease-ca...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
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Elsevier
2020-12-01
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| Series: | Thrombosis Update |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S266657272030002X |
| _version_ | 1819275829865086976 |
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| author | Meera Sridharan Michelle L. Kluge Ronald S. Go Roshini S. Abraham Ann M. Moyer |
| author_facet | Meera Sridharan Michelle L. Kluge Ronald S. Go Roshini S. Abraham Ann M. Moyer |
| author_sort | Meera Sridharan |
| collection | DOAJ |
| description | Atypical hemolytic uremic syndrome (aHUS) is a thrombotic microangiopathy (TMA) characterized by dysregulation of the alternative pathway of complement. Heterozygous variants in complement and complement regulatory proteins may increase risk for aHUS and, to date, the highest frequency of disease-causing variants in aHUS has been identified in the CFH gene encoding complement factor H. Clinical laboratory classification of variants identified in CFH can be challenging, particularly in the case of novel variants. In this report, we describe 6 patients with aHUS found to have rare variants in CFH and highlight challenges faced with variant classification in rare disorders such as aHUS. |
| first_indexed | 2024-12-23T23:30:33Z |
| format | Article |
| id | doaj.art-b5d52f1f6c9740369e58c456fcffb55f |
| institution | Directory Open Access Journal |
| issn | 2666-5727 |
| language | English |
| last_indexed | 2024-12-23T23:30:33Z |
| publishDate | 2020-12-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Thrombosis Update |
| spelling | doaj.art-b5d52f1f6c9740369e58c456fcffb55f2022-12-21T17:26:04ZengElsevierThrombosis Update2666-57272020-12-011100002Challenges in classification of novel CFH variants in patients with atypical hemolytic uremic syndromeMeera Sridharan0Michelle L. Kluge1Ronald S. Go2Roshini S. Abraham3Ann M. Moyer4Division of Hematology, Mayo Clinic, Rochester, MN, USA; Corresponding author. Mayo Clinic, 200 First Street, SW, Rochester, MN, 55905, USA.Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USADivision of Hematology, Mayo Clinic, Rochester, MN, USADepartment of Pathology and Laboratory Medicine, Nationwide Children’s Hospital, Columbus, OH, USADepartment of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USAAtypical hemolytic uremic syndrome (aHUS) is a thrombotic microangiopathy (TMA) characterized by dysregulation of the alternative pathway of complement. Heterozygous variants in complement and complement regulatory proteins may increase risk for aHUS and, to date, the highest frequency of disease-causing variants in aHUS has been identified in the CFH gene encoding complement factor H. Clinical laboratory classification of variants identified in CFH can be challenging, particularly in the case of novel variants. In this report, we describe 6 patients with aHUS found to have rare variants in CFH and highlight challenges faced with variant classification in rare disorders such as aHUS.http://www.sciencedirect.com/science/article/pii/S266657272030002XAlternative pathwayThrombotic microangiopathyComplement factor HGenetic variant classification |
| spellingShingle | Meera Sridharan Michelle L. Kluge Ronald S. Go Roshini S. Abraham Ann M. Moyer Challenges in classification of novel CFH variants in patients with atypical hemolytic uremic syndrome Thrombosis Update Alternative pathway Thrombotic microangiopathy Complement factor H Genetic variant classification |
| title | Challenges in classification of novel CFH variants in patients with atypical hemolytic uremic syndrome |
| title_full | Challenges in classification of novel CFH variants in patients with atypical hemolytic uremic syndrome |
| title_fullStr | Challenges in classification of novel CFH variants in patients with atypical hemolytic uremic syndrome |
| title_full_unstemmed | Challenges in classification of novel CFH variants in patients with atypical hemolytic uremic syndrome |
| title_short | Challenges in classification of novel CFH variants in patients with atypical hemolytic uremic syndrome |
| title_sort | challenges in classification of novel cfh variants in patients with atypical hemolytic uremic syndrome |
| topic | Alternative pathway Thrombotic microangiopathy Complement factor H Genetic variant classification |
| url | http://www.sciencedirect.com/science/article/pii/S266657272030002X |
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