P184: KAT14 as a novel gene associated with Diamond-Blackfan anemia

Genetics in Medicine Open 2026 Open access

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Authors: Pankaj Agrawal, Shiyu Luo, Anjali Pawar, Haoyue Sheng, Nicole Robinson, Lamrot Tulu, Casie A. Genetti, Jonathan Picker, Abdulrahman Aldeeri, Timothy W. Yu, Alan H. Beggs, Klaus Schmitz-Abe
+16 more Qifei Li, Jiahai Shi, Madesh Ramesh, Victtoria Ardellini, KC Kent Lloyd, Firdous Abdulwahab, Bayan Mohammed Aljamal, Syed Osman Ali Ahmed, Ibrahim Ghemlas, Abdulrahman Alswaid, Hala Alathel, Khadijah Bakur, Lama AlAbdi, Fowzan Sami Alkuraya, Xiang-Jiao Yang, Suma Shankar
DOI: 10.1016/j.gimo.2026.103678
Cited by: 0

Abstract

Diamond-Blackfan anemia (DBA) is a rare congenital bone marrow failure syndrome presenting in infancy with red cell aplasia of variable severity, and frequent growth or congenital anomalies. Pathogenic variants in ribosomal protein genes explain ∼60–70% of cases, leaving up to 40% genetically unexplained. KAT14, encoding a histone acetyltransferase within the ATAC complex, is essential for chromatin regulation and development but has not previously been linked to a Mendelian disorder.

Fields of Study & Subjects

Blood disorders and treatments Genomics and Rare Diseases Immunodeficiency and Autoimmune Disorders

Publication details

Journal / source
Genetics in Medicine Open
Volume
4
Pages
103678–103678
Publication date
1 January 2026
Language
EN