Biallelic TYR and TKFC variants in Egyptian patients with OCA1 and new expanded TKFC features
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.
Authors
- Engy A. Ashaat (ORCID: https://orcid.org/0000-0002-2116-1570)
- Alaaeldin Fayez (ORCID: https://orcid.org/0000-0003-3433-3033)
- Sonia A. El-Saiedi (ORCID: https://orcid.org/0000-0001-6992-4242)
- Ibrahim Said
- Mohamed Ahmed Al Kersh (ORCID: https://orcid.org/0000-0003-4656-2642)
- Dalia Farouk (ORCID: https://orcid.org/0000-0003-4918-1810)
- Ammal M. Metwally (ORCID: https://orcid.org/0000-0003-0575-5202)
- Neveen A. Ashaat (ORCID: https://orcid.org/0000-0002-7548-6143)
- Nirvana AbdelHakim
- Abeer Ramadan (ORCID: https://orcid.org/0000-0001-5757-1769)
- Nora N. Esmaiel
Institutions
- Ain Shams University (EG)
- Cairo University (EG)
- National Human Genome Research Institute (US)
- National Research Centre (EG)
Publication Details
- Journal
- BMC Genomics
- Published
- 2024-09-09
- DOI
- https://doi.org/10.1186/s12864-024-10705-4
- Citations
- 2
- Primary Topic
- melanin and skin pigmentation
- Type
- article
- Field-Weighted Citation Impact
- 0.65
Funders
- Science and Technology Development Fund