A novel mutation in MED12 causes FG syndrome (Opitz-Kaveggia syndrome)

作者：Rump P^*; Niessen R C; Verbruggen K T; Brouwer O F; de Raad M; Hordijk R

来源：Clinical Genetics, 2011, 79(2): 183-188.

DOI：10.1111/j.1399-0004.2010.01449.x

• FG syndrome
• MED12
• multiple congenital anomalies
• Opitz
• Kaveggia syndrome
• p
• G958E
• p
• R961W
• X-linked mental retardation

Opitz-Kaveggia syndrome is a rare X-linked multiple congenital anomalies and intellectual disability disorder caused by the recurrent p.R961W mutation in the MED12 gene. Twenty-three affected males from 10 families with this mutation in the MED12 gene have been described so far. Here we report on a new family with three affected cousins, in which we identified a novel MED12 mutation (p.G958E). This is the first demonstration that other mutations in this gene can also lead to Opitz-Kaveggia syndrome. The clinical phenotype of these three new cases is reviewed in detail and compared with the previous reported cases.

• 出版日期2011-2