A 163-bp deletion in the neurofibromatosis 2 (NF2) gene associated with variant phenotypes [corrected].
We have analyzed cDNA from a 46-year-old atypical neurofibromatosis type 2 (NF2) patient who had lumbar tumors, cataract and schwannomas of peripheral nerves but no vestibular schwannomas, and have identified a 163-bp deletion in the NF2 transcript. The deletion is predicted to remove 54, alter 15 and add four extra amino acids at the C-terminus of the NF2-gene product. The same deletion was found in her two daughters and in a 3-year-old grandson. Bilateral vestibular schwannomas were detected in the two asymptomatic daughters, whereas no abnormality was found in the grandson.
Kluwe
L
L
Department of Neurological Surgery, University Hospital Eppendorf, Hamburg, Germany.
Pulst
S M
SM
Köppen
J
J
Mautner
V F
VF
D000328:Adult; D002386:Cataract / Q000235:genetics; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D004273:DNA, Neoplasm / Q000032:analysis*; D005260:Female; D017353:Gene Deletion; D016515:Genes, Neurofibromatosis 2 / Q000235:genetics*; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D009442:Neurilemmoma / Q000235:genetics*; D016518:Neurofibromatosis 2 / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D013120:Spinal Cord Neoplasms / Q000235:genetics*
D004273:DNA, Neoplasm