Germline mosaicism in neurofibromatosis type 1 due to a paternally derived multi-exon deletion.
Am J Med Genet A
; 152A(6): 1467-73, 2010 Jun.
Article
em En
| MEDLINE
| ID: mdl-20503322
ABSTRACT
We report on the clinical and molecular features of a family in which neurofibromatosis type 1 (NF1) occurred in two of three siblings born to unaffected parents and in one granddaughter. Linkage analysis showed that the two affected siblings and the daughter of one of them shared the same paternal allele, whereas they had inherited different maternal alleles. We detected a disease-causing deletion (c.4773-3622-?_5749+?del) encompassing three NF1 gene exons in affected individuals. This mutation occurred on the paternally derived allele, arguing for a germline mosaicism in the probands' father. Real-time PCR showed that the mutation was present in about 10-17% of the paternal sperms. Current results confirm that germline mosaicism can explain the recurrence of NF1 in offspring of unaffected parents.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Neurofibromatose 1
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Mutação em Linhagem Germinativa
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Neurofibromina 1
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Mosaicismo
Limite:
Female
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Humans
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Male
Idioma:
En
Revista:
Am J Med Genet A
Assunto da revista:
GENETICA MEDICA
Ano de publicação:
2010
Tipo de documento:
Article
País de afiliação:
Itália