Table 1 Information on gene variant sites
From: A case report: Marfan syndrome with X trisomy and FBN1 and SDHB mutations
Gene | Chromosomal location | rs number | Variant site | Types of mutation | Proband | Father | Mother | ACMG Pathogenicity RATING | Related diseases (OMIM) | Genetic pattern |
|---|---|---|---|---|---|---|---|---|---|---|
FBN1 | chr15: 48704912 | rs 200309328 | NM_000138: exon65: c.8080C > T: p.Arg2694* | Nonsense | Heterozygous | Wild type | Wild type | Pathogenic | MFS (154,700) | AD |
SDHB | chr1: 17371320 | rs 74315370 | NM_003000: exon2: c.136C > T: p.Arg46* | Nonsense | Heterozygous | Heterozygous | Wild type | Pathogenic | Paraganglioma type 4 (115,310) | AD |