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A Japanese pedigree of familial cerebral cavernous malformations--a case report
Insights
This study investigated familial cerebral cavernous malformations (FCCM) in a Japanese family. Genetic analysis revealed partial deletions in the KRIT1 gene in one patient, contributing to understanding FCCM genetics.
Area of Science:
- Genetics
- Neurology
- Vascular Biology
Background:
- Familial cerebral cavernous malformations (FCCM) are inherited vascular disorders.
- Three genes (KRIT1/CCM1, MGC4607/CCM2, PDCD10/CCM3) are currently known to cause FCCM.
- Genetic studies on Japanese FCCM populations are limited.
Observation:
- A Japanese family with four FCCM patients presented with multiple brain lesions.
- Two patients underwent surgical removal of intracranial lesions due to enlargement or hemorrhage.
- One patient remained asymptomatic, while the mother experienced spinal cord hemorrhage.
Findings:
- Histological examination confirmed cavernous malformations in surgically removed lesions.
- Genetic analysis of one patient identified heterozygous partial deletions in exons 12-15 of the KRIT1 gene.
- This finding suggests a potential genetic cause for FCCM in this Japanese family.
Implications:
- This research expands the understanding of KRIT1 gene mutations in FCCM.
- It highlights the importance of genetic analysis in diagnosing and managing FCCM.
- Further research is needed to explore the full spectrum of genetic variations in Japanese FCCM patients.
Abstract:
Familial cerebral cavernous malformations (FCCM) are autosomal-dominant vascular malformations. At present, 3 cerebral cavernous malformation genes (KRIT1/CCM1, MGC4607/CCM2, and PDCD10/CCM3) have been identified. Few genetic analyses of Japanese FCCM have been reported. A Japanese pedigree of 4 patients with FCCM has been reported that includes the genetic analysis of one of the patients. All 4 patients showed multiple lesions in the brain. Surgical removal was performed at our hospital due to enlargement or hemorrhage of the intracranial lesions in a 21-year-old female (Case 1) and a 30-year-old male (Case 2). The histological diagnoses were cavernous malformations. A 62-year-old female (Case 4), the mother of Cases 1, 2, and 3, suffered from intramedullary hemorrhage at T6-7 and surgical removal was performed at another hospital. Only one patient, a 32-year-old female (Case 3), did not show symptoms. The genetic analysis of Case 2 demonstrated heterozygous partial deletions of exons 12-15 of the KRIT1 gene.
