Small deletion at the 7q21.2 locus in a CCM family detected by Real-Time Quantitative PCR

Lucia Anna Muscarella, Vito Guarnieri, Michelina Coco, Serena Belli, Paola Parrella, Giuseppe Pulcrano, Domenico Catapano, Vincenzo A. D'Angelo, Leopoldo Zelante, Leonardo D'Agruma

Research output: Contribution to journalArticle

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Abstract

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 KRIT1 (Krev Interaction Trapped 1) gene, located at 7q21.2 (CCM1 locus). We described the complete loss of 7q21.2 locus encompassing the KRIT1 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 KRIT1 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 700kb, to the adjacent downstream and upstream-located genes, MTERF, AKAP9, CYP51A1, as well as a partial loss of the ANKIB1 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 KRIT1 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.

Original languageEnglish
Article number854737
JournalJournal of Biomedicine and Biotechnology
Volume2010
DOIs
Publication statusPublished - 2010

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Central Nervous System Cavernous Hemangioma
Real-Time Polymerase Chain Reaction
Genes
Inborn Genetic Diseases
Medical Genetics
Microsatellite Repeats
Stroke
Mothers

ASJC Scopus subject areas

  • Biotechnology
  • Molecular Medicine
  • Genetics
  • Molecular Biology
  • Health, Toxicology and Mutagenesis

Cite this

Small deletion at the 7q21.2 locus in a CCM family detected by Real-Time Quantitative PCR. / Muscarella, Lucia Anna; Guarnieri, Vito; Coco, Michelina; Belli, Serena; Parrella, Paola; Pulcrano, Giuseppe; Catapano, Domenico; D'Angelo, Vincenzo A.; Zelante, Leopoldo; D'Agruma, Leonardo.

In: Journal of Biomedicine and Biotechnology, Vol. 2010, 854737, 2010.

Research output: Contribution to journalArticle

Muscarella, Lucia Anna ; Guarnieri, Vito ; Coco, Michelina ; Belli, Serena ; Parrella, Paola ; Pulcrano, Giuseppe ; Catapano, Domenico ; D'Angelo, Vincenzo A. ; Zelante, Leopoldo ; D'Agruma, Leonardo. / Small deletion at the 7q21.2 locus in a CCM family detected by Real-Time Quantitative PCR. In: Journal of Biomedicine and Biotechnology. 2010 ; Vol. 2010.
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