| Remarks |
Unaffected carrier; non-consanguineous; Marfan Syndrome; tall stature - 6'9"; 15q deletion; variant segregation analysis by whole exome sequencing revealed that this father has a heterozygous mutation in exon 4 of the SURF1 gene (NM_003172.2): c.269T>C (p.L90P) and a heterozygous mutation in exon 34 of the FBN1 gene (NM_000138.4): c.4096G>A (p.E1366K) or p.Gu1366Lys (GAA>AAA); has three affected children in family 3515: GM28019 (daughter), GM28020 (son), and GM28021 (son); family history of aortic root dilution, lens dislocation, Marfanoid habitus, and joint flexibility. |