Two novel variants in GRN: the relevance of CNV analysis and genetic screening in FTLD patients with a negative family history
Julie F H De Houwer, Elise G P Dopper, Ana Rajicic, Renee van Buuren, Marina Arcaro, Daniela Galimberti, Guido J Breedveld, Martina Wilke, Rick van Minkelen, Lize C Jiskoot, John C van Swieten, Laura Donker Kaat, Harro Seelaar · 2024
Read Two novel variants in GRN: the relevance of CNV analysis and genetic screening in FTLD patients with a negative family history by Julie F H De Houwer, Elise G P Dopper, Ana Rajicic, Renee van Buuren, Marina Arcaro, Daniela Galimberti, Guido J Breedveld, Martina Wilke, Rick van Minkelen, Lize C Jiskoot, John C van Swieten, Laura Donker Kaat, Harro Seelaar (2024) in the Tower of Babel, a free online library of public-domain works preserved in clean, searchable text. No sign-up. The full text is served as a plain-text file at a predictable URL, where text is present: https://antarctic-labs.com/tower-of-babel/pmc-11649753.txt.
Description
Julie De Houwer and a large team report two new variants in the GRN gene, in work from 2024. Variants in GRN cause a share of frontotemporal lobar degeneration, a leading cause of early onset dementia. Four patients from four families had whole exome sequencing with copy-number analysis, plus progranulin level tests.
Copy-number analysis found a partial deletion shared by three patients, with a shared haplotype that points to a founder mutation. A new missense variant was found in a fourth patient with no family history. Typical pathology and low progranulin levels support both variants as likely causes. The authors urge full genetic screening, including copy-number analysis, even without family history.
Catalog record
| CREATOR | Julie F H De Houwer, Elise G P Dopper, Ana Rajicic, Renee van Buuren, Marina Arcaro, Daniela Galimberti, Guido J Breedveld, Martina Wilke, Rick van Minkelen, Lize C Jiskoot, John C van Swieten, Laura Donker Kaat, Harro Seelaar |
|---|---|
| YEAR | 2024 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 27 KB |
| VERSION | 1.0 |
| LICENSE | CC BY 4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |