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Case Reports
. 2012 Oct;18(10):867-9.
doi: 10.1111/j.1755-5949.2012.00373.x. Epub 2012 Aug 20.

A novel mutation in the HTRA1 gene identified in Chinese CARASIL pedigree

Xiao-Ling Wang, Chuan-Fen Li, Hong-Wei Guo, Bing-Zhen Cao
Case Reports

A novel mutation in the HTRA1 gene identified in Chinese CARASIL pedigree

Xiao-Ling Wang et al. CNS Neurosci Ther. 2012 Oct.
No abstract available

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Conflict of interest statement

The authors declare no conflict of interest.

Figures

Figure 1
Figure 1
The clinical, radiological, and pathological features of the patients with cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL). (A) The pedigree chart of the family with CARASIL. Arrow, the proband; solid symbols, patients; squares, men; circles, women; oblique, dead siblings. (B) The upper picture showed mild hair loss in the proband, and the lower showed severe baldness in her younger brother. (C) Brain MRI revealed remarkable cerebral white matter lesions and multiple lacunar infarcts (the upper were the proband; the lower were her younger brother). (D) Skin and sural nerve biopsy of the proband showed concentric thickening of the vascular wall, narrowing of the lumen (a, HE stain, bar = 25 μm), and mild fibrous proliferation of the intima (b, Masson stain, bar = 25 μm). There was no amyloid deposition on the vascular wall (c, Congo red stain, bar = 25 μm) and no ultrastructural granular osmiophilic material (GOMs) on the basement of smooth muscle cells (d, Electron microscopy, bar = 1 μm).
Figure 2
Figure 2
The gene sequencing result of the family with cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL). (A) The two patients had a novel homozygous mutation at 364 position in exon 6. The parents and proband's daughter had heterozygous T/C, and the healthy controls had T/T. (B) The mutation at 364 revealing a substitution of leucine to proline is located in a highly conserved amino acid residue region (shaded in gray).
See this image and copyright information in PMC

References

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