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Engineering Oncogenic Heterozygous Gain-of-Function Mutations in Human Hematopoietic Stem and Progenitor Cells
Published on: March 10, 2023
A Chinese CARASIL Patient Caused by Novel Compound Heterozygous Mutations in HTRA1
1Department of Neurology, Sir Run Run Shaw Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, China; Center for Sleep Sciences and Medicine, Sir Run Run Shaw Hospital, Zhejiang University School of Medicine, Hangzhou, China.
Abstract:
Our objective is to reported a Chinese CARASIL patient caused by novel compound heterozygous mutations in HTRA1. Detailed clinical and neuroimaging examination were conducted in proband and her available family members. Sanger sequencing of NOTCH3 and HTRA1 was used to investigate causative mutations. The patient was born in an outbred family. She experienced recurrent transient ischemic attacks, hair loss, and low back pain. Brain magnetic resonance imaging showed multiple lacunar infarctions, diffuse leukoencephalopathy, and multiple microbleeds of white matter. A compound heterozygous mutation, c.958G > A (p.D320N) and c.1021G > A (p.G341J), were identified in the proband. This report highlights that screening of HTRA1 should be considered in young SVD patient despite from outbred families.
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