Two novel variants in GRN: the relevance of CNV analysis and genetic screening in FTLD patients with a negative family history.

ABSTRACT:

Background

Frontotemporal lobar degeneration (FTLD) is one of the leading causes of early onset dementia. Pathogenic variants in GRN have been reported to cause 5-25% of familial and 5% of sporadic FTLD. Here, we present two novel, likely pathogenic variants in GRN.

Methods

Four patients from four different families underwent whole exome sequencing (WES) with additional copy-number variance (CNV) analysis in a clinical setting. TMEM106B rs1990622 and rs3173615 SNPs and 3'UTR insertion were tested in one presymptomatic carrier. In three probands and one presymptomatic carrier, plasma progranulin (PGRN) levels were measured using a specific ELISA kit. In two probands, neuropathological diagnosis was established using current neuropathological criteria.

Results

Through C

SUBMITTER: De Houwer JFH 

PROVIDER: S-EPMC11649753 | biostudies-literature | 2024 Dec

REPOSITORIES: biostudies-literature