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Childs Nerv Syst. 2012 Dec;28(12):2181-3. doi: 10.1007/s00381-012-1905-7. Epub 2012 Sep 11.

A new nonsense mutation in the NF1 gene with neurofibromatosis-Noonan syndrome phenotype.

Author information

1
Department of Pediatric Neurology, Osmangazi University Medical Faculty, Eskisehir, Turkey. sevgifahri@yahoo.com

Abstract

PURPOSE:

Neurofibromatosis-Noonan syndrome is a rare autosomal dominant disorder which combines neurofibromatosis type 1 (NF1) features with Noonan syndrome. NF1 gene mutations are reported in the majority of these patients.

METHOD:

Sequence analysis of the established genes for Noonan syndrome revealed no mutation; a heterozygous NF1 point mutation c.7549C>T in exon 51, creating a premature stop codon (p.R2517X), had been demonstrated.

RESULT:

Neurofibromatosis-Noonan syndrome recently has been considered a subtype of NF1 and caused by different NF1 mutations.

CONCLUSION:

We report the case of a 14-year-old boy with neurofibromatosis type 1 with Noonan-like features, who complained of headache with triventricular hydrocephaly and a heterozygous NF1 point mutation c.7549C>T in exon 51.

PMID:
22965773
DOI:
10.1007/s00381-012-1905-7
[Indexed for MEDLINE]
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