Biallelic TYR and TKFC variants in Egyptian patients with OCA1 and new expanded TKFC features.
Engy A AshaatNora N EsmaielSonia A El-SaiediNeveen A AshaatDalia Farouk HussenAbeer RamadanMohamed Ahmed Al KershNirvana S AbdelHakimIbrahim SaidAmmal M MetwallyAlaaeldin FayezPublished in: BMC genomics (2024)
This study presented a first family with the co-existence of biallelic variants in TYR and TKFC genes associating severe skeletal abnormalities and lethal hypertrophic cardiomyopathy. Neither of these genes would have been pursued in the standard genetic counseling. Such discovery is paving the way for more efficient genetic counseling. Comparing TKFC results with literature data showed that our relevant expanded TKFC variant is the 3rd worldwide.
Keyphrases
- genome wide
- copy number
- hypertrophic cardiomyopathy
- left ventricular
- intellectual disability
- dna methylation
- smoking cessation
- systematic review
- small molecule
- bioinformatics analysis
- hiv testing
- genome wide identification
- high throughput
- early onset
- electronic health record
- heart failure
- autism spectrum disorder
- gene expression
- drug induced
- machine learning
- atrial fibrillation
- genome wide analysis
- deep learning
- single cell