Article

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

2022-04-16

Abstract excerpt

We describe a case of a Japanese boy with syndromic congenital sideroblastic anemia who presented with various non-hematological symptoms. Genetic analysis showed a heterozygous frameshift mutation (c.1639delA) and T/T genotype of the common coding single nucleotide polymorphism rs10117 (c.1933C>T) in HSPA9 . Parental analysis revealed that the father carried the same frameshift mutation as well as rs10117 (T/T)...

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Literature Corpus work: 34824fbe-3726-580f-acf5-5d97fe91c1e3
DOI: 10.22541/au.165009783.33851650/v1

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