TY - JOUR T1 - Risk assessment of maternally inherited <em>SDHD</em> paraganglioma and phaeochromocytoma JF - Journal of Medical Genetics JO - J Med Genet SP - 125 LP - 133 DO - 10.1136/jmedgenet-2016-104297 VL - 54 IS - 2 AU - Nelly Burnichon AU - Jean-Michaël Mazzella AU - Delphine Drui AU - Laurence Amar AU - Jérôme Bertherat AU - Isabelle Coupier AU - Brigitte Delemer AU - Isabelle Guilhem AU - Philippe Herman AU - Véronique Kerlan AU - Antoine Tabarin AU - Nelly Wion AU - Khadija Lahlou-Laforet AU - Judith Favier AU - Anne-Paule Gimenez-Roqueplo Y1 - 2017/02/01 UR - http://jmg.bmj.com/content/54/2/125.abstract N2 - Background Germline mutations in the SDHD tumour suppressor gene (11q23.1) predispose to phaeochromocytomas and paragangliomas (PPGL) mainly on a paternal transmission. However, PPGL have been recently reported in three carriers of a maternally inherited SDHD mutation.Objective To assess the risk of PPGL occurrence on maternal transmission of SDHD mutation.Methods Pedigrees of 80 SDHD-related families have been reviewed. 35 asymptomatic subjects carrying a maternally transmitted SDHD mutation were identified. 20 of them accepted to benefit from a PPGL imaging screening.Results A unique histologically proven biochemically negative phaeochromocytoma has been diagnosed in a 35-year-old woman. Molecular investigations carried out on tumour tissue revealed that the loss of heterozygosity encompassed the paternally derived q arm and the maternally derived p arm of chromosome 11.Conclusions This study demonstrates that the risk of developing PPGL for a subject carrying a germline SDHD mutation on the maternal allele remains a rare scenario but does exist. Our data suggest an adjustment of current genetic counselling and clinical care recommendations for at-risk subjects. A targeted familial genetic test should be proposed from the age of 18 years to every subject having a mother carrying a germline SDHD mutation and a first medical workup, including imaging, should be recommended to SDHD-positive mutation carriers. ER -