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Cerebral Small Vessel Disease Related to a Heterozygous Nonsense Mutation in HTRA1.


ABSTRACT: Homozygous or compound heterozygous mutations in the high-temperature requirement A serine protease 1 gene (HTRA1) cause cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy, a very rare hereditary cerebral small-vessel disease (SVD). Recently, the relationship between some heterozygous HTRA1 mutations, most of which are missense, and the occurrence of cerebral SVD has been reported. We herein report a patient with cerebral SVD carrying a heterozygous nonsense p.R302X mutation in HTRA1. This patient had a family history of cerebral infarction. This report suggests that a heterozygous p.R302X mutation in HTRA1 causes an autosomal dominant cerebral SVD.

SUBMITTER: Ohta K 

PROVIDER: S-EPMC7303461 | biostudies-literature | 2020 May

REPOSITORIES: biostudies-literature

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Cerebral Small Vessel Disease Related to a Heterozygous Nonsense Mutation in HTRA1.

Ohta Kentaro K   Ozawa Tetsuo T   Fujinaka Hidehiko H   Goto Kiyoe K   Nakajima Takashi T  

Internal medicine (Tokyo, Japan) 20200226 10


Homozygous or compound heterozygous mutations in the high-temperature requirement A serine protease 1 gene (HTRA1) cause cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy, a very rare hereditary cerebral small-vessel disease (SVD). Recently, the relationship between some heterozygous HTRA1 mutations, most of which are missense, and the occurrence of cerebral SVD has been reported. We herein report a patient with cerebral SVD carrying a heterozygous nonse  ...[more]

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