Identification of disease-causing variants by comprehensive genetic testing with exome sequencing in adults with suspicion of hereditary FSGS
In about 30% of infantile, juvenile, or adolescent patients with steroid-resistant nephrotic syndrome (SRNS), a monogenic cause can be identified. The histological finding in SRNS is often focal segmental glomerulosclerosis (FSGS). Genetic data on adult patients are scarce with low diagnostic yields...
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| Veröffentlicht in: | European journal of human genetics : EJHG 2021-02, Vol.29 (2), p.262-270 |
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| creator | Braunisch, Matthias Christoph Riedhammer, Korbinian Maria Herr, Pierre-Maurice Draut, Sarah Günthner, Roman Wagner, Matias Weidenbusch, Marc Lungu, Adrian Alhaddad, Bader Renders, Lutz Strom, Tim M Heemann, Uwe Meitinger, Thomas Schmaderer, Christoph Hoefele, Julia |
| description | In about 30% of infantile, juvenile, or adolescent patients with steroid-resistant nephrotic syndrome (SRNS), a monogenic cause can be identified. The histological finding in SRNS is often focal segmental glomerulosclerosis (FSGS). Genetic data on adult patients are scarce with low diagnostic yields. Exome sequencing (ES) was performed in patients with adult disease onset and a high likelihood for hereditary FSGS. A high likelihood was defined if at least one of the following criteria was present: absence of a secondary cause, ≤25 years of age at initial manifestation, kidney biopsy with suspicion of a hereditary cause, extrarenal manifestations, and/or positive familial history/reported consanguinity. Patients were excluded if age at disease onset was |
| doi_str_mv | 10.1038/s41431-020-00719-3 |
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The histological finding in SRNS is often focal segmental glomerulosclerosis (FSGS). Genetic data on adult patients are scarce with low diagnostic yields. Exome sequencing (ES) was performed in patients with adult disease onset and a high likelihood for hereditary FSGS. A high likelihood was defined if at least one of the following criteria was present: absence of a secondary cause, ≤25 years of age at initial manifestation, kidney biopsy with suspicion of a hereditary cause, extrarenal manifestations, and/or positive familial history/reported consanguinity. Patients were excluded if age at disease onset was <18 years. In 7/24 index patients with adult disease onset, a disease-causing variant could be identified by ES leading to a diagnostic yield of 29%. Eight different variants were identified in six known genes associated with monogenic kidney diseases. Six of these variants had been described before as disease-causing. In patients with a disease-causing variant, the median age at disease onset and end-stage renal disease was 26 and 38 years, respectively. The overall median time to a definite genetic diagnosis was 9 years. In 29% of patients with adult disease onset and suspected hereditary FSGS, a monogenic cause could be identified. The long delay up to the definite genetic diagnosis highlights the importance of obtaining an early genetic diagnosis to allow for personalized treatment options including weaning of immunosuppressive treatment, avoidance of repeated renal biopsy, and provision of accurate genetic counseling.</description><identifier>ISSN: 1018-4813</identifier><identifier>EISSN: 1476-5438</identifier><identifier>DOI: 10.1038/s41431-020-00719-3</identifier><identifier>PMID: 32887937</identifier><language>eng</language><publisher>England: Nature Publishing Group</publisher><subject>Adult ; Age ; Biopsy ; Consanguinity ; Diagnosis ; Disease ; End-stage renal disease ; Exome ; Female ; Genetic counseling ; Genetic Research ; Genetic screening ; Genetic Testing ; Glomerulosclerosis, Focal Segmental - diagnosis ; Glomerulosclerosis, Focal Segmental - genetics ; Humans ; Kidney diseases ; Kidney Diseases - genetics ; Male ; Nephrotic syndrome ; Nephrotic Syndrome - diagnosis ; Phenotype ; Whole Exome Sequencing ; Young Adult</subject><ispartof>European journal of human genetics : EJHG, 2021-02, Vol.29 (2), p.262-270</ispartof><rights>The Author(s) 2020. This work is published under http://creativecommons.org/licenses/by/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.</rights><rights>The Author(s) 2020</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c430t-ba8d5b06feaa30f02208349545efd251bc91a46621c22cc90f556c2cb3a480f93</citedby><cites>FETCH-LOGICAL-c430t-ba8d5b06feaa30f02208349545efd251bc91a46621c22cc90f556c2cb3a480f93</cites><orcidid>0000-0002-4454-8823 ; 0000-0002-7917-7129 ; 0000-0002-7503-5801 ; 0000-0003-4542-5267</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC7868362/pdf/$$EPDF$$P50$$Gpubmedcentral$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC7868362/$$EHTML$$P50$$Gpubmedcentral$$Hfree_for_read</linktohtml><link.rule.ids>230,314,727,780,784,885,27922,27923,53789,53791</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/32887937$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Braunisch, Matthias Christoph</creatorcontrib><creatorcontrib>Riedhammer, Korbinian Maria</creatorcontrib><creatorcontrib>Herr, Pierre-Maurice</creatorcontrib><creatorcontrib>Draut, Sarah</creatorcontrib><creatorcontrib>Günthner, Roman</creatorcontrib><creatorcontrib>Wagner, Matias</creatorcontrib><creatorcontrib>Weidenbusch, Marc</creatorcontrib><creatorcontrib>Lungu, Adrian</creatorcontrib><creatorcontrib>Alhaddad, Bader</creatorcontrib><creatorcontrib>Renders, Lutz</creatorcontrib><creatorcontrib>Strom, Tim M</creatorcontrib><creatorcontrib>Heemann, Uwe</creatorcontrib><creatorcontrib>Meitinger, Thomas</creatorcontrib><creatorcontrib>Schmaderer, Christoph</creatorcontrib><creatorcontrib>Hoefele, Julia</creatorcontrib><title>Identification of disease-causing variants by comprehensive genetic testing with exome sequencing in adults with suspicion of hereditary FSGS</title><title>European journal of human genetics : EJHG</title><addtitle>Eur J Hum Genet</addtitle><description>In about 30% of infantile, juvenile, or adolescent patients with steroid-resistant nephrotic syndrome (SRNS), a monogenic cause can be identified. The histological finding in SRNS is often focal segmental glomerulosclerosis (FSGS). Genetic data on adult patients are scarce with low diagnostic yields. Exome sequencing (ES) was performed in patients with adult disease onset and a high likelihood for hereditary FSGS. A high likelihood was defined if at least one of the following criteria was present: absence of a secondary cause, ≤25 years of age at initial manifestation, kidney biopsy with suspicion of a hereditary cause, extrarenal manifestations, and/or positive familial history/reported consanguinity. Patients were excluded if age at disease onset was <18 years. In 7/24 index patients with adult disease onset, a disease-causing variant could be identified by ES leading to a diagnostic yield of 29%. Eight different variants were identified in six known genes associated with monogenic kidney diseases. Six of these variants had been described before as disease-causing. In patients with a disease-causing variant, the median age at disease onset and end-stage renal disease was 26 and 38 years, respectively. The overall median time to a definite genetic diagnosis was 9 years. In 29% of patients with adult disease onset and suspected hereditary FSGS, a monogenic cause could be identified. The long delay up to the definite genetic diagnosis highlights the importance of obtaining an early genetic diagnosis to allow for personalized treatment options including weaning of immunosuppressive treatment, avoidance of repeated renal biopsy, and provision of accurate genetic counseling.</description><subject>Adult</subject><subject>Age</subject><subject>Biopsy</subject><subject>Consanguinity</subject><subject>Diagnosis</subject><subject>Disease</subject><subject>End-stage renal disease</subject><subject>Exome</subject><subject>Female</subject><subject>Genetic counseling</subject><subject>Genetic Research</subject><subject>Genetic screening</subject><subject>Genetic Testing</subject><subject>Glomerulosclerosis, Focal Segmental - diagnosis</subject><subject>Glomerulosclerosis, Focal Segmental - genetics</subject><subject>Humans</subject><subject>Kidney diseases</subject><subject>Kidney Diseases - genetics</subject><subject>Male</subject><subject>Nephrotic syndrome</subject><subject>Nephrotic Syndrome - 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The histological finding in SRNS is often focal segmental glomerulosclerosis (FSGS). Genetic data on adult patients are scarce with low diagnostic yields. Exome sequencing (ES) was performed in patients with adult disease onset and a high likelihood for hereditary FSGS. A high likelihood was defined if at least one of the following criteria was present: absence of a secondary cause, ≤25 years of age at initial manifestation, kidney biopsy with suspicion of a hereditary cause, extrarenal manifestations, and/or positive familial history/reported consanguinity. Patients were excluded if age at disease onset was <18 years. In 7/24 index patients with adult disease onset, a disease-causing variant could be identified by ES leading to a diagnostic yield of 29%. Eight different variants were identified in six known genes associated with monogenic kidney diseases. Six of these variants had been described before as disease-causing. In patients with a disease-causing variant, the median age at disease onset and end-stage renal disease was 26 and 38 years, respectively. The overall median time to a definite genetic diagnosis was 9 years. In 29% of patients with adult disease onset and suspected hereditary FSGS, a monogenic cause could be identified. 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| subjects | Adult Age Biopsy Consanguinity Diagnosis Disease End-stage renal disease Exome Female Genetic counseling Genetic Research Genetic screening Genetic Testing Glomerulosclerosis, Focal Segmental - diagnosis Glomerulosclerosis, Focal Segmental - genetics Humans Kidney diseases Kidney Diseases - genetics Male Nephrotic syndrome Nephrotic Syndrome - diagnosis Phenotype Whole Exome Sequencing Young Adult |
| title | Identification of disease-causing variants by comprehensive genetic testing with exome sequencing in adults with suspicion of hereditary FSGS |
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