Description
Reported in association with Fukuyama congenital muscular dystrophy (FCMD), limb girdle muscular dystrophy (LGMD), and Walker-Warburg syndrome (WWS) (Kondo-Iida et al., 1999; Godfrey et al., 2006; Cotarelo et al., 2008; Manzini et al., 2008; Chang et al., 2009); Reported with a second variant in the FKTN gene in a patient with dilated cardiomyopathy; however, segregation information was not provided (Burstein et al., 2021); Founder mutation in the Ashkenazi Jewish population, present in 81/10350 (0.78%) alleles from individuals of Ashkenazi Jewish ancestry in large population cohorts (gnomAD; Cotarelo et al., 2008; Manzini et al., 2008; Chang et al., 2009); Frameshift variant predicted to result in protein truncation, as the last 72 amino acids are replaced with 13 different amino acids, and other loss-of-function variants have been reported downstream in HGMD; This variant is associated with the following publications: (PMID: 18752264, 18177472, 19266496, 20961758, 10545611, 27065010, 29327352, 17044012, 31980526, 32746448)
| # | Sample | Method | Observation |
|---|
| Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences |
|---|
| 1 | germline | yes | not provided | not provided | not provided | | not provided | not provided | not provided | not provided |
