Supplementary Material - Evidence for a Founder Effect of SDHB Exon 1 Deletion in Brazilian Patients with Paraganglioma

Published: 10 January 2023| Version 1 | DOI: 10.17632/tvrc23nffr.1
Contributors:
Gustavo Fagundes,
,
Lucas Santos de Santana,
Ana Caroline F. Afonso,
Janaina Petenuci,
Mariana F. A. Funari,
Augusto G. Guimaraes,
Felipe L. Ledesma,
maria adelaide albergaria pereira,
Carolina R. Victor,
Marcela S. M. Ferrari,
Fernando M. A. Coelho,
Victor Srougi,
Fabio Y. Tanno,
Jose L. Chambo,
,
Berenice Mendonca,
Maria Candida B Villares Fragoso,
Ana O. Hoff,

Description

Supplementary Materials: Supplementary figure 1. Pedigree of Case #4 showing the high penetrance of the SDHB exon 1 deletion by the age of 60 years. Only one case had an abdominal paraganglioma diagnosed by genetic surveillance. Supplementary table 1. Oligonucleotides used for SDHB, SDHC and SDHD SANGER sequencing, and for SDHB breakpoint analysis. Supplementary table 2. Classification of SDHB variants according to the American College of Medical Genetics (ACMG) and the Association for Molecular Pathology (AMP). Supplementary materials. High throughput sequencing data analysis.

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Institutions

Universidade de Sao Paulo

Categories

Genetics, Endocrinology, Human Genetics, Pheochromocytoma, Founder Effect

Funding

Fundação de Amparo à Pesquisa do Estado de São Paulo

2019/15873-6

Fundação de Amparo à Pesquisa do Estado de São Paulo

21/11240-9

Fundação de Amparo à Pesquisa do Estado de São Paulo

21/10363-0

Fundação de Amparo à Pesquisa do Estado de São Paulo

21/10101-5

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