Early?onset epilepsy and microcephaly?capillary malformation syndrome caused by a novel STAMBP mutation in a Chinese boy.

ABSTRACT: To the best of our knowledge, the present study reported the case of the first Chinese patient with microcephaly?capillary malformation (MIC?CAP) syndrome caused by a novel compound heterozygous mutation in the STAMBP gene, which encodes STAM binding protein. The present study also provides a review of relevant previously published studies. A boy with MIC?CAP syndrome with developmental delay, intractable epilepsy and prominent dyskinesia was examined. A pathogenic mutation was identified by whole?exome sequencing, and the protein structure and function affected by this mutation were predicted using bioinformatics analysis. Finally, the clinical features of 16 other cases reported in previous studies were reviewed and compared. A novel compound heterozygous mutation of the STAMBP (c.1119?1G>T, c.968A>G) was identified in the present study and epilepsy was refractory, consistent with previously reported cases. The present study also highlighted the fact that STAMBP mutation?associated MIC?CAP often presents as intractable early?life epilepsy, which may lead to mortality.

SUBMITTER: Wu F 

PROVIDER: S-EPMC6854595 | biostudies-literature | 2019 Dec

REPOSITORIES: biostudies-literature