Germline SDHD mutation in paraganglioma of the spinal cord

Masuoka, Jun; Brandner, Sebastian; Paulus, Werner; Soffer, Dov; Vital, Anne; Chimelli, Leila; Jouvet, Anne; Yonekawa, Yasuhiro; Kleihues, Paul; Ohgaki, Hideaki

doi:10.1038/sj.onc.1204579

Cited by 40 publications

(18 citation statements)

References 22 publications

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“…Other authors have found this change in their groups of patients with neuroendocrine tumors (Masuoka et al, 2001;Kytölä et al, 2002;Perren et al, 2002) but not in their control populations (none, 100, and 93 control individuals, respectively). Through these studies, the presence of the G12S variant has been related to the development of paraganglioma of the spinal cord (Masuoka et al, 2001), midgut carcinoid and Merkel cell carcinoma (Kytölä et al, 2002), and paratracheal paraganglioma (Perren et al, 2002).…”

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confidence: 86%

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G12S and H50R variations are polymorphisms in the SDHD gene

Cascón

Ruiz‐Llorente

Cebrián

et al. 2003

Genes Chromosomes & Cancer

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confidence: 86%

“…Through these studies, the presence of the G12S variant has been related to the development of paraganglioma of the spinal cord (Masuoka et al, 2001), midgut carcinoid and Merkel cell carcinoma (Kytölä et al, 2002), and paratracheal paraganglioma (Perren et al, 2002).…”

mentioning

confidence: 98%

G12S and H50R variations are polymorphisms in the SDHD gene

Cascón

Ruiz‐Llorente

Cebrián

et al. 2003

Genes Chromosomes & Cancer

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“…Whereas the G12S variation is considered as a polymorphism, 13 the importance of the G12S+S68S variation is still a matter of debate. 14 Indeed, this variant has already been found in the germline of one patient with a spinal cord Pgl, 15 the germline of two patients with digestive carcinoids considered to be neuroendocrine tumours, 14 and the germline of one patient with a unilateral Phaeo, 16 stressing its potential pathogenic role. However, this G12S+S68S variation also occurred in five controls out of 200 tested, 16 a finding that led us to consider it not to be a clearly deleterious polymorphism.…”

Section: Phenotypingmentioning

confidence: 99%

Hereditary phaeochromocytomas and paragangliomas: a study of five susceptibility genes

Bauters

2003

Journal of Medical Genetics

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“…23 However, the presence of this change in 2.5% of the control population led us to conclude that this change constitutes a polymorphism. The S68S variant was also found in all the five controls that tested positive for G12S change and in a patient with spinal paraganglioma, 4 so we can conclude that these variants are in linkage disequilibrium. The H50R missense substitution found in exon 2 causes an amino acid change that could alter the protein conformation.…”

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confidence: 91%

Identification of novel SDHD mutations in patients with phaeochromocytoma and/or paraganglioma

et al. 2002

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Familial paraganglioma is a dominantly inherited disorder characterised by the development of highly vascular tumours in the head and neck. Recently, a relationship between hereditary tumours derived from the autonomic nervous system and germline mutations in the gene encoding succinate dehydrogenase complex subunit D (SDHD) is increasingly a subject of study. Familial paraganglioma syndrome is embryologically related to phaeochromocytoma, another neuroendocrine tumour that shows great aetiological and genetic heterogeneity. Some hereditary phaeochromocytomas may be associated with germline mutations in VHL, RET and NF1 genes in genetic disorders such as von Hippel -Lindau disease (VHL), multiple endocrine neoplasia type 2 (MEN 2) and neurofibromatosis type 1 (NF 1), respectively. However, there are many cases that cannot be explained by mutations in these genes. In this report, we describe two previously unreported mutations in two patients from 25 unrelated kindreds with phaeochromocytoma and/or paraganglioma disorders and with or without familial antecedents: a mutation featuring the change of tryptophan to a termination codon in exon 2, and a 4-bp deletion in exon 4 that results in a truncated protein. We also describe one missense substitution of uncertain significance. The patients had previously tested negative for germline mutations in VHL and RET genes and had not been previously selected. The involvement of SDHD mutations in familial phaeochromocytoma and/or paraganglioma predisposition is of considerable interest since other studies have shown these alterations to be associated with highly expressed angiogenic factors.

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Germline SDHD mutation in paraganglioma of the spinal cord

Cited by 40 publications

References 22 publications

G12S and H50R variations are polymorphisms in the SDHD gene

G12S and H50R variations are polymorphisms in the SDHD gene

Hereditary phaeochromocytomas and paragangliomas: a study of five susceptibility genes

Identification of novel SDHD mutations in patients with phaeochromocytoma and/or paraganglioma

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