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Molecular studies in 20 submicroscopic neurofibromatosis type 1 gene deletions

✍ Scribed by Catalina López Correa; Hilde Brems; Conxi Lázaro; Xavier Estivill; Maurizio Clementi; Silvia Mason; J. Lynn Rutkowski; Peter Marynen; Eric Legius

Publisher
John Wiley and Sons
Year
1999
Tongue
English
Weight
291 KB
Volume
14
Category
Article
ISSN
1059-7794

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✦ Synopsis

Communicated by Michel Goossens

Neurofibromatosis type 1 (NF1) is a common autosomal dominant disorder characterized by a marked variability in expression. A more severe phenotype is frequently observed in the group of patients carrying a large NF1 deletion. To study the extent of the microdeletion in these NF1 patients, we generated a partial physical map of the NF1 flanking region. We describe seven PACs and three new polymorphic dinucleotide repeats located outside the NF1 gene and analyzed 20 unrelated individuals with an NF1 microdeletion in a collaborative study. We detected one individual with a substantially smaller deletion including only the NF1 gene and its three embedded genes. In the other 19 patients, the deletion extended at least 1 Mb. The parental origin of the deletion was determined in 15 individuals and was maternal in 13 and paternal in two cases. The new molecular tools described here can be used to unequivocally diagnose a possible extragenic extension of an NF1 deletion. Hum Mutat 14:387-393, 1999.

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