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(A) The patient did not have a family history of IP or DC. His 3 maternal uncles were affected with malignancy. (B) The candidate variant was extracted by trio whole-exome sequencing (III-2, II-1 and II-9). By sanger confirmation, the affected male and his mother were hemizygous and heterozygous, respectively, for a missense variant of the DKC1 gene (c.1246T>A: p.Tyr416Asn in NM_001363.3). This variant was predicted to be pathogenic.
