Literature DB >> 19205158

Cerebellopontine angle tumor in a patient with a maternally inherited SDHD gene mutation.

Larry D Hartzell1, Kent D McKelvey, Rudy L Van Hemert, John Dornhoffer.   

Abstract

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.

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Year:  2008        PMID: 19205158

Source DB:  PubMed          Journal:  Int Tinnitus J        ISSN: 0946-5448


  2 in total

Review 1.  International consensus on initial screening and follow-up of asymptomatic SDHx mutation carriers.

Authors:  Laurence Amar; Karel Pacak; Olivier Steichen; Scott A Akker; Simon J B Aylwin; Eric Baudin; Alexandre Buffet; Nelly Burnichon; Roderick J Clifton-Bligh; Patricia L M Dahia; Martin Fassnacht; Ashley B Grossman; Philippe Herman; Rodney J Hicks; Andrzej Januszewicz; Camilo Jimenez; Henricus P M Kunst; Dylan Lewis; Massimo Mannelli; Mitsuhide Naruse; Mercedes Robledo; David Taïeb; David R Taylor; Henri J L M Timmers; Giorgio Treglia; Nicola Tufton; William F Young; Jacques W M Lenders; Anne-Paule Gimenez-Roqueplo; Charlotte Lussey-Lepoutre
Journal:  Nat Rev Endocrinol       Date:  2021-05-21       Impact factor: 43.330

Review 2.  Paragangliomas/Pheochromocytomas: clinically oriented genetic testing.

Authors:  Rute Martins; Maria João Bugalho
Journal:  Int J Endocrinol       Date:  2014-05-12       Impact factor: 3.257

  2 in total

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