未经证实:高温要求中的纯合或复合杂合突变丝氨酸蛋白酶1基因(HTRA1)可引起伴有皮质下梗塞和白质病变(CARASIL)的常染色体隐性遗传性脑动脉病。一些杂合突变之间的关系,其中大多数是错觉的,脑小血管病(CSVD)的发生已有报道。最近,杂合子HTRA1无义突变已被认为是致病性的。
UNASSIGNED:我们描述了两名诊断为HTRA1-CSVD并伴有杂合无义突变的中国患者。他们最初的临床表现是由于缺血性中风引起的症状,脑磁共振成像(MRI)显示弥漫性白质病变(WML)和微出血。基因测序揭示了两个新的杂合无义突变:c.1096G>T(p。E366X)和c.151G>T(p。E51X)。
未经证实:本病例报告扩大了临床,射线照相,和HTRA1-CSVD的遗传谱。应重视以缺血性脑卒中为首发临床表现的年轻患者。建议对这种散发性CSVD进行基因筛查,即使症状不典型。
UNASSIGNED: Homozygous or compound heterozygous mutations in the high-temperature requirement A serine protease 1 gene (HTRA1) elicits cerebral autosomal recessive arteriopathy with subcortical infarcts and white matter lesions (CARASIL). The relationship between some heterozygous mutations, most of which are missense ones, and the occurrence of cerebral small vessel diseases (CSVD) has been reported. Recently, heterozygous HTRA1
nonsense mutations have been recognized to be pathogenic.
UNASSIGNED: We described two Chinese patients diagnosed with HTRA1-CSVD accompanied by heterozygous
nonsense mutations. Their first clinical manifestations were symptoms due to ischemic stroke, and brain Magnetic Resonance Imaging (MRI) showed diffuse white matter lesions (WMLs) and microbleeds in both of them. Genetic sequencing revealed two novel heterozygous
nonsense mutations: c.1096G>T (p.E366X) and c.151G>T (p.E51X).
UNASSIGNED: This case report expands the clinical, radiographic, and genetic spectrum of HTRA1-CSVD. Attention should be paid to young patients with ischemic stroke as the first clinical manifestation. Genetic screening for such sporadic CSVD is recommended, even if the symptoms are atypical.