Login / Signup

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 Fayez
Published 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