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NM_017875.3(SLC25A38):c.324_325delCT (p.Tyr109Leufs) AND Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive

Significance: Pathogenic
ClinVar: RCV000001178

Variant: NM_017875.3(SLC25A38):c.324_325delCT (p.Tyr109Leufs)

Type: Variant
Allele: NM_017875.3(SLC25A38):c.324_325delCT (p.Tyr109Leufs) 16158
Gene:
Type: Deletion
Location: Chr3: 39432979 - 39432980 - assembly GRCh37
Chr3: 39391488 - 39391489 - assembly GRCh38
References: dbSNP: 869320719
OMIM: 610819.0002

Condition

Disease: Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive

Citation

    In 2 unrelated patients with autosomal recessive sideroblastic anemia-2 (SIDBA2; 205950), Guernsey et al. (2009) identified a homozygous 2-bp deletion (698delCT) in the SLC25A38 gene, resulting in a frameshift and premature termination. One patient was of Hispanic descent and the other of European descent. In 4 others patients with sideroblastic anemia, The 698delCT deletion was observed in compound heterozygosity with another putative pathogenic mutation in 4 additional patients with sideroblastic anemia (see, e.g., R187P, 610819.0003).
PMID:19412178