Is the c.3G>C mutation in the succinate dehydrogenase subunit D (SDHD) gene due to a founder effect in Chinese head and neck paraganglioma patients?

Objectives/Hypothesis: Three Chinese patients with head and neck paragangliomas have been reported to carry the c.3G>C mutation in the succinate dehydrogenase subunit D (SDHD) gene. In addition, in our hospital, two further patients were identified who have the same mutation. It is unclear whethe...

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Bibliographic Details
Published in:The Laryngoscope 2011-08, Vol.121 (8), p.1760-1764
Main Authors: Zha, Yang, Chen, Xing-ming, Lam, Ching-wan, Lee, Soo-chin, Tong, Sui-fan, Gao, Zhi-qiang
Format: Article
Language:English
Subjects:
Adult
Biological and medical sciences
China
Dehydrogenases
Female
Founder Effect
Genes
Genetics, Population
Germ-Line Mutation
haplotype
Haplotypes
Head and Neck Neoplasms - genetics
Humans
individual case-control study
Level of Evidence: 3b
Level of Evidence: 3b, individual case‐control study
Male
Medical sciences
Microsatellite Repeats
Middle Aged
Mutation
Neurology
Otorhinolaryngology. Stomatology
paraganglioma
Paraganglioma - genetics
Point Mutation
succinate dehydrogenase
Succinate Dehydrogenase - genetics
Tumors of the nervous system. Phacomatoses
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Summary:Objectives/Hypothesis: Three Chinese patients with head and neck paragangliomas have been reported to carry the c.3G>C mutation in the succinate dehydrogenase subunit D (SDHD) gene. In addition, in our hospital, two further patients were identified who have the same mutation. It is unclear whether the c.3G>C mutation in Chinese patients is a recurrent mutation or if it is due to a founder effect. We conducted haplotype analysis on these patients to answer this question. Study Design: Individual case‐control study. Methods: Germ‐line mutations were confirmed in the patients and their families examined in this study using direct sequencing. We also constructed and analyzed haplotypes in four Chinese families. Genotype frequencies were compared to the control group. Results: Three of four families shared the same haplotype, which rarely occurred in the control group. The last family shared a very short area on the physical map with the other three families. Conclusions: There is a founder effect in Chinese head and neck paraganglioma patients carrying the SDHD c.3G>C mutation.
ISSN:0023-852X
1531-4995
DOI:10.1002/lary.21850