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Gonosomal mosaicism for a nonsense mutation (R1947X) in the NF1 gene in segmental neurofibromatosis type 1

Consoli, Claudia, Moss, Celia, Green, S., Balderson, D., Cooper, David Neil ORCID: and Upadhyaya, Meena 2005. Gonosomal mosaicism for a nonsense mutation (R1947X) in the NF1 gene in segmental neurofibromatosis type 1. Journal of Investigative Dermatology 125 (3) , pp. 463-466. 10.1111/j.0022-202x.2005.23834.x

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Segmental neurofibromatosis type 1 (SNF1), characterized by the regionally limited distribution of neurofibromatosis type 1 (NF1) features, has been attributed to mosaicism for an NF1 gene mutation. The occurrence of classical NF1 in the offspring of a parent with SNF1 suggests that cutaneous mosaicism may be accompanied by gonadal mosaicism. We studied a girl with generalized NF1, and her mother who has SNF1. A recurrent nonsense mutation in exon 31 (R1947X) of the NF1 gene was identified in the lymphocyte DNA of the affected child by denaturing high-performance liquid chromatography and PCR/direct sequencing. DNA sequence analysis failed, however, to identify the R1947X mutation in peripheral lymphocytes, and in keratinocytes and fibroblasts cultured from affected and unaffected skin in the mother. DNA fragments containing exon 31 were then cloned from each cell line and these clones were screened using allele-specific PCR. The R1947X mutation was identified in 29 of 146 clones derived from keratinocytes from the affected region and in 12 of 136 clones derived from fibroblasts from the affected region, but in no clones derived from clinically unaffected tissues. These findings confirm that gonosomal mosaicism can occur in SNF1, with consequent important implications for genetic counselling.

Item Type: Article
Date Type: Publication
Status: Published
Schools: Medicine
Subjects: R Medicine > R Medicine (General)
R Medicine > RZ Other systems of medicine
Uncontrolled Keywords: Adult, Child, Codon Nonsense/genetics*, Female, Genes Neurofibromatosis1*, Humans, Mosaicism*, Neurofibromatosis 1/genetics* Substances Codon, Nonsense
Additional Information: Publication Types Research Support, Non-U.S. Gov't Full Text Sources Nature Publishing Group EBSCO Ovid Technologies, Inc. ProQuest Other Literature Sources COS Scholar Universe Medical Neurofibromatosis - Genetic Alliance Neurofibromatosis type 1 - Genetic Alliance neurofibromatosis type 1 - Genetics Home Reference NF1 Gene - Genetics Home Reference
Publisher: Nature Publishing Group
ISSN: 0022-202X
Last Modified: 25 Oct 2022 10:01

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