title: A novel KRIT1 gene mutation in a patient with cerebral and multiple spinal cavernous malformations.
abstract: Cavernous malformations (CMs) occur most often in the brain, but they have also been observed in extracranial regions. The synchronous finding of CMs in both the brain and spinal cord is rare. Furthermore, multiple spinal cord CMs are exceedingly rare, with only one reported case in Korea. Here, we present a 65-yr-old Korean male with cerebral CMs (CCMs) and multiple spinal CMs. The patient complained of a gait disturbance and left foot paresthesia. The lesions involved the entire neuraxis, including the temporal lobe, right thalamus, and the cervical, thoracic, and lumbar spinal cord. Molecular analysis of the KRIT1 (CCM1) gene identified a novel heterozygous frameshift mutation (c.816delG; p. Arg273GlufsX3) in the KRIT1 gene. Although genetic analyses were not performed in the patient's family members, the family history of cerebral hemorrhage in his mother, sons, sister, and the sister's sons suggests an autosomal dominant inheritance of the mutation. This study reveals a novel mutation of the KRIT1 gene related to CCM and multiple spinal CMs. Based on these findings, molecular diagnosis might be beneficial for early diagnosis and treatment of the family members.
authors.affiliation: Department of Laboratory Medicine & Genetics, Soonchunhyang University College of Medicine and Bucheon Hospital, Bucheon, Korea.
authors.forename: Yong-Wha
authors.initials: YW
authors.lastname: Lee
authors.forename: Seung-Tae
authors.initials: ST
authors.lastname: Lee
authors.forename: Jang-Gyu
authors.initials: JG
authors.lastname: Cha
authors.forename: Jeong-Ho
authors.initials: JH
authors.lastname: Park
authors.forename: Byung Ryul
authors.initials: BR
authors.lastname: Jeon
authors.forename: You Kyoung
authors.initials: YK
authors.lastname: Lee
authors.forename: Jong-Won
authors.initials: JW
authors.lastname: Kim
authors.forename: Chang-Seok
authors.initials: CS
authors.lastname: Ki
mesh_terms: D000368:Aged; D005260:Female; D016368:Frameshift Mutation / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D020786:Hemangioma, Cavernous, Central Nervous System / Q000235:genetics* / Q000473:pathology; D006579:Heterozygote; D006801:Humans; D000075927:KRIT1 Protein; D007723:Korea; D008279:Magnetic Resonance Imaging; D008297:Male; D008869:Microtubule-Associated Proteins / Q000235:genetics*; D010375:Pedigree; D011379:Prognosis; D011518:Proto-Oncogene Proteins / Q000235:genetics*; D013116:Spinal Cord / Q000002:abnormalities* / Q000473:pathology
chemical_list: D000075927:KRIT1 Protein; C107928:KRIT1 protein, human; D008869:Microtubule-Associated Proteins; D011518:Proto-Oncogene Proteins