New mutations of the 12th exon of CCM1 gene in Chinese patients with intracranial cavernous angiomas / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To study the effect of CCM1 gene mutations in Chinese patients with intracranial cavernous angiomas(ICCA).</p><p><b>METHODS</b>Twenty-one ICCA patients confirmed by pathology after operations in hospital from June 2002 to Feb.2003 and 15 healthy individuals as contrast were recruited. The peripheral venous blood samples of all the individuals were collected, and then DNA was extracted from the blood samples followed by amplification of exon 12 and some of its intron sequence using PCR. After purification, the PCR products were directly sequenced by ABI PRISM377 sequencing instrument.</p><p><b>RESULTS</b>Three mutations of CCM1 gene were found in 5 patients and reported firstly. There existed a missense mutation of 1172C-->T in exon 12 in 5 patients, which led the No.391 amino acid of KRIT1 protein, serine, to phenyalanine. There existed a missense mutation of 1160A-->C in one patient, which led the No.387 amino acid, glutamine, to proline. Another mutation was an intronic mutation of IVS12-4C-->T in 4 patients. In contrast no mutations were found.</p><p><b>CONCLUSION</b>The authors firstly report that mutations of CCM1 gene in exon 12 also exist in Chinese ICCA patients and those mutations are related with the occurring of ICCA.</p>