A Study of Congenital Protein C Deficiency With Infancy Onset of CADASIL in a Chinese Baby

Summary

We studied a rare case of an infat boy diagnosed with both congenital PCD and CADASIL; congenital PCD was attributable to a compound that was homozygous for (A-G)-12 at the transcription initiation site in the promoter region of the PROC gene, and CADASIL was caused by missense mutation in exon 24 of NOTCH3. He was a sporadic patient with congenital PCD and CADASIL; it maybe that the deficiency of protein C led to early onset of CADASIL. The gene sequencing of PROC gene and NOTCH3 gene may have important value for fertility guidance and prenatal diagnosis.

Authors Yuan X, Li C, Chen X, Liu L, Liu G, Wen F
Journal Journal of pediatric hematology/oncology
Publication Date 2019 May;41(4):e210-e215
PubMed 30883460
PubMed Central PMC6493701
DOI 10.1097/MPH.0000000000001436

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