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