Identification of an Arg35X mutation in the PDCD10 gene in a patient with cerebral and multiple spinal cavernous malformations.
Although cerebral cavernous malformations (CCMs) are not uncommon, the concurrent finding of cavernous malformations (CMs) both in the brain and spinal cord is quite rare. Furthermore, multiple spinal cord CMs are extremely rare with only a few cases being reported thus far. Recently, we encountered a 33-year-old Korean male with both CCM and multiple spinal intramedullary CMs. The patient complained of seizure and right chest paresthesia. The lesions were located throughout the neuraxis including the cerebral hemisphere, brain stem, and cervical and thoracic spinal cords. Molecular analysis of the KRIT1 (CCM1), CCM2, and PDCD10 (CCM3) genes identified a heterozygous nonsense mutation (c.103C>T; Arg35X) in the PDCD10 gene, which was reported previously in a CCM family. The patient denied a family history, however, his daughter had an identical mutation, but was asymptomatic. Three months later, after identifying the mutation in the father and the daughter, the daughter presented with seizure. To the best of our knowledge, this is the first report of an association between a mutation in the PDCD10 gene and spinal CMs.
Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, 50 Irwon-Dong, Gangnam-Gu, Seoul, 135-710, Republic of Korea.
Seung-Tae
ST
Lee
Ki-Whan
KW
Choi
Hyung-Tae
HT
Yeo
Jong-Won
JW
Kim
Chang-Seok
CS
Ki
Young-Dae
YD
Cho
D000328:Adult; D000595:Amino Acid Sequence / Q000235:genetics; D019943:Amino Acid Substitution / Q000235:genetics; D051017:Apoptosis Regulatory Proteins / Q000737:chemistry / Q000235:genetics*; D001120:Arginine / Q000235:genetics; D001921:Brain / Q000098:blood supply / Q000473:pathology* / Q000503:physiopathology; D018389:Codon, Nonsense / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D005819:Genetic Markers / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics; D005820:Genetic Testing; D005838:Genotype; D020786:Hemangioma, Cavernous, Central Nervous System / Q000235:genetics* / Q000473:pathology* / Q000503:physiopathology; D006801:Humans; D040582:Inheritance Patterns / Q000235:genetics; D007723:Korea; D008279:Magnetic Resonance Imaging; D008297:Male; D008565:Membrane Proteins / Q000737:chemistry / Q000235:genetics*; D011518:Proto-Oncogene Proteins / Q000737:chemistry / Q000235:genetics*; D012640:Seizures / Q000235:genetics; D013116:Spinal Cord / Q000098:blood supply / Q000473:pathology* / Q000503:physiopathology
D051017:Apoptosis Regulatory Proteins; D018389:Codon, Nonsense; D005819:Genetic Markers; D008565:Membrane Proteins; C495390:PDCD10 protein, human; D011518:Proto-Oncogene Proteins; D001120:Arginine