Screening for Congenital Thrombocytopenia ( CTP ) Using a Targeted Thrombocytopenia Gene Panel

The authors declare no conflicts of interest. The data that support the findings of this study are available from the corresponding author upon reasonable request. Figure S1:. Deletions detected by reduced amplicon reads in patient #12 (A) and patient #13 (B). Each strip stands for reads standardized by PCR efficacy and sample property; each strip height indicates the ratio of “(specific amplicon read)/(average of reads of the patient)” divided by the corresponding ratio of a normal sample. The results were validated via SNP array on a commercial basis, which indicated a 9.9 Mbp deletion on q24.2-q25 of chromosome 22 of patient #12 and a 2.5 Mbp deletion on q26-q27 of chromosome 11 of patient #13, respectively (data not shown). Figure S2:. Time course of thrombocytopenia of patient #17 (A) and #18 (B). Horizontal axis, vertical axis, and open rectangles stand for days from birth, platelet number (× 10E9/L), transfusion of platelet concentrate, respectively. Note that patient #17 showed spontaneous recovery while patient #18 has prolonged course which is unusual for thrombocytopenia of Noonan syndrome. Figure S3:. Genograms of pedigrees A–E, indicative of genetic etiology in these cases. Numbers indicate anonymized case identifiers. Table S1: List of genes reported to cause congenital thrombocytopenia. N/A, not applicable; AD, autosomal dominant; AR, autosomal recessive; XLR, X-linked recessive, IC; isolated cases. Table S2: Summary of the patients suspected of CTP. Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article.