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SDHB , SDHC , and SDHD mutation screen in sporadic and familial head and neck paragangliomas
Author(s) -
Mhatre AN,
Li Y,
Feng L,
Gasperin A,
Lalwani AK
Publication year - 2004
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.2004.00328.x
Subject(s) - sdhd , sdhb , germline mutation , paraganglioma , mutation , genetics , biology , sdha , cancer research , gene , medicine , pathology , gene expression
Mutations within three genes, SDHB , SDHC , and SDHD , encoding distinct subunits of a hetero‐oligomeric protein known as the mitochondrial complex II, a component of the mitochondrial electron transport chain and the Krebs cycle have been implicated in the pathogenesis of hereditary paraganglioma (PGL). This study describes a mutation screen of SDHB , SDHC , and SDHD in blood and tumor samples of 14 sporadic and three familial cases of head and neck PGL (HNP). Germline mutations in SDHB and SDHD were identified in two of the three affected individuals with familial HNP. The SDHB mutation was a novel 3 base pair, in‐frame deletion of AGC at nucleotide 583–585 encoding serine (delS195). The SDHD mutation was a C to T transition within codon 81 causing substitution of proline with leucine (P81L). In contrast to familial cases, no germline or somatic mutations were identified in the 14 sporadic cases of HNP. The presence of mutations within SDHB and SDHD in two of the three samples of familial PGLs and absence of mutations in sporadic cases is consistent with the significant contribution of these genes to familial but not sporadic PGL. The etiology of sporadic PGL remains to be elucidated.