HSPA9 frameshift and loss-of-function mutations in a patient manifesting syndromic sideroblastic anemia and congenital anomalies

Pediatr Blood Cancer. 2023 Mar;70(3):e29971. doi: 10.1002/pbc.29971. Epub 2022 Sep 12.

Authors

Atsuko Watanabe¹, Tohru Fujiwara², Atsuhiko Ohta¹, Yuki Shimizu¹, Ryuhei Tanaka¹

Affiliations

¹ Department of Pediatric Oncology/Hematology, International Medical Center, Saitama Medical University, Hidaka, Japan.
² Department of Hematology, Tohoku University Graduate School of Medicine, Sendai, Japan.

PMID: 36094340
DOI: 10.1002/pbc.29971

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Anemia, Sideroblastic* / genetics
Frameshift Mutation
HSP70 Heat-Shock Proteins / genetics
Humans
Mitochondrial Proteins / genetics
Mutation
Mutation, Missense

Substances

HSP70 Heat-Shock Proteins
HSPA9 protein, human
Mitochondrial Proteins