W43X SDHD mutation in sporadic head and neck paraganglioma.
OBJECTIVE
To analyze the presence of SDHD gene mutations in patients with sporadic head and neck paraganglioma.


METHODS
The presence of somatic and germline SDHD mutations was investigated in 10 patients by polymerase chain reaction and direct sequencing.


RESULTS
Two patients displayed mutations: 259C>T (P87S) in 1 case and 129G>A (W43X) in the other. The first was considered a neutral polymorphism. The second was present in the germline of 1 of her sons, who had an apparently unrelated testicular seminoma and loss of heterozygosity (LOH) in the tumor cells.


CONCLUSIONS
This is the first reported case of an SDHD mutation carrier showing LOH in a testicular seminoma.
Department of Otorhinolaryngology, Virgen Macarena Hospital, Sevilla, Spain.
Hugo
H
Galera-Ruiz
Ricardo
R
Gonzalez-Campora
Manuel
M
Rey-Barrera
Angel
A
Rollón-Mayordomo
Antonio
A
Garcia-Escudero
José M
JM
Fernández-Santos
Manuel
M
DeMiguel
Hugo
H
Galera-Davidson
D000328:Adult; D001483:Base Sequence; D004252:DNA Mutational Analysis; D006258:Head and Neck Neoplasms / Q000235:genetics*; D006801:Humans; D019656:Loss of Heterozygosity; D008875:Middle Aged; D008969:Molecular Sequence Data; D009154:Mutation; D010235:Paraganglioma / Q000235:genetics*; D013385:Succinate Dehydrogenase / Q000235:genetics*
C491545:SDHD protein, human; D013385:Succinate Dehydrogenase