A novel CCM1 gene mutation causes cerebral cavernous malformation in a Chinese family

Zhao, Yao; Xie, Lihui; Li, Peiliang; Song, Jianping; Qu, Tianming; Fan, Weiwei; Chen, Hongyan; Chen, Dan; Lu, Daru; Zhou, Liangfu; Mao, Ying

doi:10.1016/j.jocn.2010.04.051

Cited by 15 publications

(6 citation statements)

References 22 publications

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“…Based on family investigation, nine patients with multiple lesions were found to have a positive family history, and two different deletion frameshift mutations of the CCM1 gene were detected. 4,5 This relatively high frequency of the familial form in pediatric CCM supports a congenital basis for CCM 3,11 and highlights the importance of screening other family members when the proband is found.…”

Section: Discussionmentioning

confidence: 71%

Clinical features and microsurgical treatment of pediatric patients with cerebral cavernous malformation

Song

Qiao

Xie

et al. 2011

Journal of Clinical Neuroscience

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Section: Discussionmentioning

confidence: 71%

Clinical features and microsurgical treatment of pediatric patients with cerebral cavernous malformation

Song

Qiao

Xie

et al. 2011

Journal of Clinical Neuroscience

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“…So far, more than 90 different CCM1 mutations have been reported ( 27 ). It is speculated that these mutations in the CCM1 gene can lead to abnormal mRNA, which in turn leads to non-functional proteins ( 28 ). Familial CCM mutations are inherited in an autosomal dominant manner, of which the penetrance is incomplete at both the clinical and neuroradiological levels ( 29 ).…”

Section: Discussionmentioning

confidence: 99%

“…The splicing mutation of the GTA deletion of the intron 9/exon 10 receptor splice site of the CCM1 gene produced a premature stop codon at the 23rd amino acid, which led to the truncation of the Krit1 protein ( 33 ). A deletion mutation (c.1197delCAAA) in exon 12 led to an early stop codon (TGA) at NT 1,228, which produced a truncated Krit1 protein of only 409 amino acids ( 28 ). One T—deletion mutation in exon 14 (c.1396delT) caused a premature stop codon in the second half of the CCM1 gene, resulting in a Krit1 protein of only 493 amino acids in length ( 34 ).…”

Section: Discussionmentioning

confidence: 99%

A Chinese Family With Cerebral Cavernous Malformation Caused by a Frameshift Mutation of the CCM1 Gene: A Case Report and Review of the Literature

Liu

et al. 2022

Front. Neurol.

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BackgroundFamilial cerebral cavernous malformation (FCCM) is a vascular malformation disease closely linked to three identified genes: KRIT1/CCM1, MGC4607/CCM2 and PDCD10/CCM3. Over the past decade, a few cases of cerebral cavernous malformation (CCM) caused by different gene mutations have been reported in Chinese families. Herein, we introduce a Chinese family affected by FCCM due to a kind of KRIT1/CCM1 frameshift mutation. At the same time, a literature review was conducted to identify case reports of familial cerebral cavernous malformation.Case presentationThe proband in the family in question demonstrated a series of clinical symptoms and features, including headache and bleeding. The proband was hospitalized for headache twice and, both times was examined under suspicion of CCM and received surgical treatment. Magnetic resonance imaging results showed that the proband had multiple intracranial vascular lesions, including on the brain, brainstem, and cerebellum. Genetic test results showed that the classic KRIT1 gene in the proband had a pathogenic mutation. The family members of the proband also showed typical cerebral cavernous malformation when considering clinical manifestations, magnetic resonance imaging findings and genetic test results.ConclusionsWe report a case of Chinese FCCM and its associated symptoms with CCM1-deletion mutations in China. Our findings deepen our understanding of CCM mutations and related phenotypes, the investigation results of this clinical experiment further show that the gene mutation form we reported plays an important role in human FCCM, and this trial investigation is beneficial for genetic counseling for CCM patients.

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“…Familial studies indicate that the KRIT1 mutation appears to be the most common ( 7 ). Italian, Swiss, French, Hispanic, and Chinese cohorts have shown primarily KRIT1 mutations ( 8 , 9 , 10 , 11 , 12 ); a German family displayed a novel large deletion encompassing the CCM3 gene ( 13 ), and families from Spain and Portugal were shown to have mutations of the CCM2 gene ( 14 ).…”

Section: Discussionmentioning

confidence: 99%

Varying clinical presentations of familial cerebral cavernous malformations (CCMs) and spinal cord cavernous malformations (SCCMs)

Nicholas-Bublick

Koffman

2012

Radiology Case Reports

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We present a family afflicted by both extensive cerebral cavernous malformations (CCMs) and spinal cord cavernous malformations (SCCMs). These may be inherited in an autosomal dominant pattern or occur sporadically. The presentation varies and may include a multitude of clinical symptoms separated in time and space. Cavernous malformations should be considered in the differential diagnosis of such entities as stroke, headache, multiple sclerosis, and new-onset seizures after an intraparenchymal hemorrhage.

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A novel CCM1 gene mutation causes cerebral cavernous malformation in a Chinese family

Cited by 15 publications

References 22 publications

Clinical features and microsurgical treatment of pediatric patients with cerebral cavernous malformation

Clinical features and microsurgical treatment of pediatric patients with cerebral cavernous malformation

A Chinese Family With Cerebral Cavernous Malformation Caused by a Frameshift Mutation of the CCM1 Gene: A Case Report and Review of the Literature

Varying clinical presentations of familial cerebral cavernous malformations (CCMs) and spinal cord cavernous malformations (SCCMs)

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