Bone Marrow Failure as an Underrecognized Feature of KAT6A Syndrome

KAT6A syndrome (Arboleda-Tham syndrome) is a rare disorder caused by heterozygous pathogenic variants in KAT6A, a histone acetyltransferase essential for chromatin remodeling and hematopoietic stem cell function. While neurodevelopmental features are well established, hematologic manifestations are underrecognized. We describe two pediatric patients from Canada and Korea who developed severe bone marrow failure and were successfully treated with hematopoietic stem cell transplantation. One carried an upstream truncating variant, the other a downstream frameshift; both disrupted domains critical for transcriptional regulation. The literature review revealed additional cases with cytopenias. Our findings highlight bone marrow failure as an overlooked feature of KAT6A syndrome.

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Publication Details

Journal
Pediatric Blood & Cancer
Published
2025-12-25
DOI
https://doi.org/10.1002/1545-5017.70023
Primary Topic
Genomics and Rare Diseases
Type
article
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article

Bone Marrow Failure as an Underrecognized Feature of KAT6A Syndrome

Chang Ahn Seol, Jung Yoon Choi, Ye Jee Shim, Bruce Crooks et al.
Pediatric Blood & Cancer
Genomics and Rare Diseases
article

Bone Marrow Failure as an Underrecognized Feature of KAT6A Syndrome

Chang Ahn Seol, Jung Yoon Choi, Ye Jee Shim, Bruce Crooks, Kyung Taek Hong, Hye Ra Jung, Rinu Mathew, Hyoung Jin Kang, Yigal Dror
article en

Abstract

KAT6A syndrome (Arboleda-Tham syndrome) is a rare disorder caused by heterozygous pathogenic variants in KAT6A, a histone acetyltransferase essential for chromatin remodeling and hematopoietic stem cell function. While neurodevelopmental features are well established, hematologic manifestations are underrecognized. We describe two pediatric patients from Canada and Korea who developed severe bone marrow failure and were successfully treated with hematopoietic stem cell transplantation. One carried an upstream truncating variant, the other a downstream frameshift; both disrupted domains critical for transcriptional regulation. The literature review revealed additional cases with cytopenias. Our findings highlight bone marrow failure as an overlooked feature of KAT6A syndrome.

Pediatric Blood & CancerVol. 73(2)
Yong In University (KR), Cancer Research Institute (US), University of Toronto (CA), Izaak Walton Killam Health Centre (CA), Hospital for Sick Children (CA), Kyungpook National University Hospital (KR), Nova Scotia Health Authority (CA), Kyungpook National University (KR), Genome and Company (South Korea) (KR), Seoul National University Children's Hospital (KR), Keimyung University (KR)
Good health and well-being
Openalex Percentile: Top 25%
Genomics and Rare Diseases
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Bone Marrow Failure as an Underrecognized Feature of KAT6A Syndrome — Chang Ahn Seol, Jung Yoon Choi, et al. · Pediatric Blood & Cancer (2025) | TGRS Research Map | TGRS