作者
Eric Pasmant, Audrey Sabbagh, Gill Spurlock, Ingrid Laurendeau, Elisa Grillo, Marie‐José Hamel, Ludovic Martin, Sébastien Barbarot, Bruno Leheup, Diana Rodriguez, Didier Lacombe, Hélène Dollfus, Laurent Pasquier, Bertrand Isidor, Salah Ferkal, Jean Soulier, Marc Sanson, Anne Dieux‐Coeslier, Ivan Bièche, Béatrice Parfait, Michel Vidaud, Pierre Wolkenstein, Meena Upadhyaya, Dominique Vidaud
发表日期
2010/6
期刊
Human mutation
卷号
31
期号
6
页码范围
E1506-E1518
出版商
Wiley Subscription Services, Inc., A Wiley Company
简介
In 5‐10% of patients, neurofibromatosis type 1 (NF1) results from microdeletions that encompass the entire NF1 gene and a variable number of flanking genes. Two recurrent microdeletion types are found in most cases, with microdeletion breakpoints located in paralogous regions flanking NF1 (proximal NF1‐REP‐a and distal NF1‐REP–c for the 1.4 Mb type‐1 microdeletion, and SUZ12 and SUZ12P for the 1.2 Mb type‐2 microdeletion). A more severe phenotype is usually associated with NF1 microdeletion patients than in those with intragenic mutations. We characterized NF1 microdeletions in 70 unrelated NF1 microdeleted patients using a high‐resolution NF1 custom array comparative genomic hybridization (CGH). Genotype‐phenotype correlations were studied in 58 of these microdeletion patients and compared to 389 patients with intragenic truncating NF1 mutations and phenotyped in the same …
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E Pasmant, A Sabbagh, G Spurlock, I Laurendeau… - Human mutation, 2010