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Molecular studies in 20 submicroscopic neurofibromatosis type 1 gene deletions
Author(s) -
Correa Catalina López,
Brems Hilde,
Lázaro Conxi,
Estivill Xavier,
Clementi Maurizio,
Mason Silvia,
Rutkowski J. Lynn,
Marynen Peter,
Legius Eric
Publication year - 1999
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/(sici)1098-1004(199911)14:5<387::aid-humu4>3.0.co;2-4
Subject(s) - neurofibromatosis , biology , genetics , gene , phenotype
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. © 1999 Wiley‐Liss, Inc.