Cerebellopontine angle tumor in a patient with a maternally inherited SDHD gene mutation.
Acoustic neuromas are the most common tumor in the cerebellopontine angle (CPA) but are rare in the general population. Paragangliomas are rarer still and, in a minority of cases (20%), are known to be caused by errors in the SDHD gene. Mutations in this gene are highly penetrant when inherited paternally but not maternally. We present the first reported case of a patient with a CPA tumor and a maternally inherited SDHD gene mutation.
Hartzell
Larry D
LD
Department of Otolaryngology-Head and Neck Surgery, University of Arkansas for Medical Sciences, Little Rock, Arkansas 72205, USA.
McKelvey
Kent D
KD
Van Hemert
Rudy L
RL
Dornhoffer
John
J
D000483:Alleles; D019943:Amino Acid Substitution / Q000235:genetics; D001483:Base Sequence; D002528:Cerebellar Neoplasms / Q000000981:diagnostic imaging / Q000235:genetics* / Q000601:surgery; D002530:Cerebellopontine Angle / Q000000981:diagnostic imaging / Q000601:surgery; D002872:Chromosome Deletion; D003062:Codon / Q000235:genetics; D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005838:Genotype; D006801:Humans; D007930:Leucine / Q000235:genetics; D009378:Neoplasms, Multiple Primary / Q000000981:diagnostic imaging / Q000235:genetics* / Q000601:surgery; D009464:Neuroma, Acoustic / Q000000981:diagnostic imaging / Q000235:genetics* / Q000601:surgery; D010235:Paraganglioma / Q000000981:diagnostic imaging / Q000235:genetics* / Q000601:surgery; D011392:Proline / Q000235:genetics; D011859:Radiography; D016634:Radiosurgery; D013385:Succinate Dehydrogenase / Q000235:genetics*
D003062:Codon; C491545:SDHD protein, human; D011392:Proline; D013385:Succinate Dehydrogenase; D007930:Leucine