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NF1 microdeletions in neurofibromatosis type 1: from genotype to phenotype

Pasmant, Eric, Sabbagh, Audrey, Spurlock, Gillian, Laurendeau, Ingrid, Grillo, Elisa, Hamel, Marie-José, Martin, Ludovic, Barbarot, Sébastien, Leheup, Bruno, Rodriguez, Diana, Lacombe, Didier, Dollfus, Hélène, Pasquier, Laurent, Isidor, Bertrand, Ferkal, Salah, Soulier, Jean, Sanson, Marc, Dieux-Coeslier, Anne, Bièche, Ivan, Parfait, Béatrice, Vidaud, Michel, Wolkenstein, Pierre, Upadhyaya, Meena and Vidaud, Dominique 2010. NF1 microdeletions in neurofibromatosis type 1: from genotype to phenotype. Human Mutation 31 (6) , E1506-E1518. 10.1002/humu.21271

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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 standardized way. Our results confirmed in an unbiased manner the existence of a contiguous gene syndrome with a significantly higher incidence of learning disabilities and facial dysmorphism in microdeleted patients compared to patients with intragenic NF1 mutations. Microdeleted NF1 patients also showed a trend toward significance for childhood overgrowth. High-resolution array-CGH identified a new recurrent ∼1.0 Mb microdeletion type, designated as type-3, with breakpoints in the paralogous regions middle NF1-REP-b and distal NF1-REP–c.

Item Type: Article
Date Type: Publication
Status: Published
Schools: Medicine
Subjects: Q Science > QH Natural history > QH426 Genetics
Uncontrolled Keywords: Genotype-phenotype correlation ; High-resolution custom CGH ; Neurofibromatosis type 1 ; NF1 locus microdeletion ; Standardized phenotype questionnaire ; Type-3 NF1 microdeletion
Additional Information: Mutation in Brief
Publisher: John Wiley & Sons
ISSN: 1059-7794
Last Modified: 04 Jun 2017 03:33

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