Alu-Mediated Deletion of FANCA in Turkish Families With Fanconi Anemia: Evidence of a Founder Effect.

doi:10.1002/ajmg.a.63945

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Article

Alu-Mediated Deletion of FANCA in Turkish Families With Fanconi Anemia: Evidence of a Founder Effect.

American journal of medical genetics. Part A - 1 Apr 2025

Durmaz Ceren Damla, Gümrük Fatma, Celkan Tiraje, Unal Sule, Çetinkaya Arda

Abstract excerpt

Fanconi anemia (FA) is a rare inherited bone marrow failure syndrome characterized by pancytopenia, increased susceptibility to malignancies, and a spectrum of congenital anomalies. Here, we report on eight affected individuals from six unrelated families with a large Alu-mediated intragenic deletion encompassing exons 6-31 in the FANCA gene, identified as a founder mutation in the Turkish population through...

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PMID: 39624858
DOI: 10.1002/ajmg.a.63945

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FANCA

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