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Article

Phenotype variability of neural crest derived tumours in six Italian families segregating the same founder SDHD mutation Q109X.

Journal of medical genetics - 1 Aug 2005

Simi L, Sestini R, Ferruzzi P, Gaglianò M S, Gensini F, Mascalchi M, Guerrini L, Pratesi C, Pinzani P, Nesi G, Ercolino T, Genuardi M, Mannelli M

Abstract excerpt

BACKGROUND: Mutations in genes coding for the mitochondrial complex II succinate dehydrogenase (SDH) subunits cause familial neural crest derived (NCD) tumours. METHODS: Index cases from six apparently unrelated families affected by NCD tumours were analysed for mutations in the SDHB, SDHC, and SDHD genes. RESULTS: The same nonsense germline heterozygous mutation (Q109X) in exon 4 of the SDHD gene was found in...

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Source

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Identifiers

PMID: 16061558
DOI: 10.1136/jmg.2004.030353
PMCID: PMC1736123

Genes

SDHD
SDHB
SDHC

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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