A novel Krit-1 mutation in Han family with cerebral cavernous malformation / 中华病理学杂志
Chinese Journal of Pathology
; (12): 220-225, 2003.
Article
in Zh
| WPRIM
| ID: wpr-242196
Responsible library:
WPRO
ABSTRACT
<p><b>OBJECTIVE</b>To detect the mutations of Krit-1 gene that cause familial cerebral cavernous malformation (CCM) in the Han ethnic origin.</p><p><b>METHODS</b>The subjects were hospitalized in the Department of Neurosurgery, Tiantan Hospital affiliated to Capital University of Medical Sciences. Two families (A and B) and 8 apparently sporadic individuals affected with CCM were screened for mutations of Krit-1 gene. Members of the family CCM have a wide range in age of onset with seizures, headaches and skin lesions. The gene was screened by PCR amplification of 16 exons and mutation was detected by direct sequencing.</p><p><b>RESULTS</b>In family A samples, analysis of the Krit-1 gene revealed a new point mutation in exon 14 [a heterozygous C to G transition at nucleotide 1 289 (counting from the start codon or nt 2 308 counting from the first nt of the mRNA, aligned according to Gene Bank AF388384)] which predicts the substitution of a premature termination codon for Serine at codon 430 (S430X), belonging a nonsense point mutation. No mutation was identified in one of family A members as well as in any of the sporadic individuals with the exception of a single nucleotide polymorphism.</p><p><b>CONCLUSIONS</b>Report the first family in the Han with CCM having a novel mutation in the CCM1 gene on the continent of Asia. The newly identified mutation creates a premature termination codon and is predicted to produce a truncated Krev1 interaction-trapped 1 protein, KRIT1. This result allows efficient presymptomatic molecular diagnosis.</p>
Full text:
1
Index:
WPRIM
Main subject:
Pathology
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Molecular Sequence Data
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Base Sequence
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Proto-Oncogene Proteins
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Hemangioma, Cavernous, Central Nervous System
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KRIT1 Protein
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Genetics
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Microtubule-Associated Proteins
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Mutation
Limits:
Adult
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Child
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Child, preschool
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Female
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Humans
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Male
Language:
Zh
Journal:
Chinese Journal of Pathology
Year:
2003
Type:
Article