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 |