{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,8,11]],"date-time":"2024-08-11T00:47:13Z","timestamp":1723337233773},"reference-count":27,"publisher":"Hindawi Limited","license":[{"start":{"date-parts":[[2010,1,1]],"date-time":"2010-01-01T00:00:00Z","timestamp":1262304000000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/3.0\/"}],"funder":[{"name":"Italian Ministry of Health"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Journal of Biomedicine and Biotechnology"],"published-print":{"date-parts":[[2010]]},"abstract":"<jats:p>Cerebral cavernous malformations (CCMs) represent a common autosomal dominant disorder that predisposes patients to haemorrhagic strokes and focal neurological signs. About 56% of the hereditary forms of CCMs have been so far associated with mutations in the<jats:italic>KRIT1<\/jats:italic>(Krev Interaction Trapped 1) gene, located at 7q21.2 (CCM1 locus). We described the complete loss of 7q21.2 locus encompassing the<jats:italic>KRIT1<\/jats:italic>gene and 4 flanking genes in a CCM family by using a dense set of 12 microsatellite markers. The complete loss of the maternal copy of<jats:italic>KRIT1<\/jats:italic>gene region was confirmed by Real-Time Quantitative Polymerase Chain Reaction (RT-QPCR) and the same approach was used for expression analysis. Additional RT-QPCR analysis showed the extension of the deletion, for a total of 700\u2009kb, to the adjacent downstream and upstream-located genes,<jats:italic>MTERF, AKAP9, CYP51A1<\/jats:italic>, as well as a partial loss of the<jats:italic>ANKIB1<\/jats:italic>gene. Here we report the molecular characterization of an interstitial small genomic deletion of the 7q21.2 region in a CCMs affected family, encompassing the<jats:italic>KRIT1<\/jats:italic>gene. Our findings confirm the loss of function mechanism for the already known CCM1 locus, without any evident involvement of the other deleted genes. Moreover, our investigations highlight the usefulness of the RT-QPCR to the molecular characterization of the breakpoints genomic deletions and to the identification of internal deleted genes involved in the human genetic diseases.<\/jats:p>","DOI":"10.1155\/2010\/854737","type":"journal-article","created":{"date-parts":[[2010,7,27]],"date-time":"2010-07-27T13:38:28Z","timestamp":1280237908000},"page":"1-7","source":"Crossref","is-referenced-by-count":7,"title":["Small Deletion at the 7q21.2 Locus in a CCM Family Detected by Real-Time Quantitative PCR"],"prefix":"10.1155","volume":"2010","author":[{"given":"Lucia Anna","family":"Muscarella","sequence":"first","affiliation":[{"name":"Laboratory of Oncology, IRCCS \u201cCasa Sollievo della Sofferenza\u201d Hospital, 71013 San Giovanni Rotondo (FG), Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vito","family":"Guarnieri","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit, Evolutive Age 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