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Article

Biallelic TYR and TKFC variants in Egyptian patients with OCA1 and new expanded TKFC features.

BMC genomics - 9 Sept 2024

Ashaat Engy A, Esmaiel Nora N, El-Saiedi Sonia A, Ashaat Neveen A, Hussen Dalia Farouk, Ramadan Abeer, Al Kersh Mohamed Ahmed, AbdelHakim Nirvana S, Said Ibrahim, Metwally Ammal M, Fayez Alaaeldin

Abstract excerpt

BACKGROUND: Oculocutaneous albinism type1 (OCA1) is caused by the TYR gene's homozygous and compound heterozygous variants. TKFC gene variants cause triokinase & FMN cyclase deficiency syndrome with variable multisystemic disorders. OBJECTIVES: To determine the potential disease-causing variants in two deceased patients presenting atypical OCA1 features by demonstrating three generations for a single family. The...

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Identifiers

PMID: 39251934
DOI: 10.1186/s12864-024-10705-4
PMCID: PMC11382379

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