A Frameshift Mutation in HTRA1 Expands CARASIL Syndrome and Peripheral Small Arterial Disease to the Chinese Population

    March 2015 in “ Neurological Sciences ”
    Bin Cai, Jiabin Zeng, Yi Lin, Yu Lin, Wenping Lin, Wei Lin, Zhiwen Li, Ning Wang
    Studysummary This study reports that a novel frameshift mutation in the HTRA1 gene in a CARASIL pedigree led to reduced HTRA1 protein and increased TGF-β1 expression, potentially causing severe CARASIL and peripheral small arterial disease. Our plain-language summary of this paper — not a Tressless recommendation.
    The study identified a novel frameshift mutation in the HTRA1 gene in a Chinese CARASIL pedigree, which expanded the understanding of CARASIL syndrome and peripheral small arterial disease to this population. The mutation, c.161_162insAG, resulted in a stop codon 159 amino acids downstream, leading to reduced HTRA1 protein and increased TGF-β1 expression. This was observed in a 28-year-old male proband and his brother, who experienced recurrent strokes, hair loss, and low back pain. The findings suggested that the mutation could cause severe CARASIL and peripheral small arterial disease due to these protein expression changes.
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