A missense mutation in the MED12 gene, located on the human X chromosome, has been established as the cause of LFS. Missense mutations are genetic point mutations in which a single nucleotide in the genetic sequence is exchanged with another one. This leads to an erroneously substitution of a particular amino acid in the protein sequence during translation. The missense mutation in the MED12 gene, that causes LFS, is identified as p.N1007S. This indicates that the amino acid asparagine, normally located at position 1007 along the MED12 sequence, has been mistakenly replaced by serine. This mutation in MED12 causes incorrect expression and activity of the protein it encodes, resulting in the disorder.
Lujan–Fryns syndrome
McKittrick-Wheelock syndrome
Smith–Fineman–Myers syndrome
Fox–Fordyce disease
McGillivray syndrome
Townes–Brocks syndrome
Kearns–Sayre syndrome
Flynn–Aird syndrome