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Deletions spanning the neurofibromatosis type 1 gene: Implications for genotype‐phenotype correlations in neurofibromatosis type 1?
Author(s) -
Cnossen Marjon H.,
van der Est Mieke N.,
Breuning Martijn H.,
van Asperen Christi J.,
BreslauSiderius Elisabeth J.,
van der Ploeg Ans T.,
de GoedeBolder Arja,
van den Ouweland Ans M. W.,
Halley Dicky J. J.,
Niermeijer Martinus F.
Publication year - 1997
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(1997)9:5<458::aid-humu13>3.0.co;2-1
Subject(s) - biology , neurofibromatosis , genetics , phenotype , genotype , gene , neurofibromatosis type i
Neurofibromatosis type 1 (NF1) is an autosomal‐dominant disorder characterized by abnormalities of tissues predominantly derived from the neural crest. Symptoms are highly variable and severity cannot be predicted, even within families. DNA of 84 unrelated patients with NF1, unselected for clinical features or severity, were screened with intragenic polymorphic repeat markers and by Southern analysis with cDNA probes. Deletions of the entire gene were detected in five patients from four unrelated families. Their phenotype resembled that of five previously reported patients with deletions, including intellectual impairment and dysmorphic features, but without an excessive number of dermal neurofibromas. This report supports the hypothesis that large deletions spanning the entire NF1 gene may lead to a specific phenotype. Hum Mutat 9:458–464, 1997 © 1997 Wiley‐Liss, Inc.