title: Filamin A mutation is one cause of FG syndrome.
abstract: FG syndrome was originally described as a rare syndromic cause of X-linked mental retardation associated with congenital heart disease, anal atresia, inguinal hernia, cryptorchidism, and other anomalies. However, recent reports have highlighted the more common milder presentation which has for cardinal features developmental delay, particularly in speech, neonatal hypotonia, relative macrocephaly, dysmorphic facial features, severe constipation, and few if any congenital malformations. Thus far, five separate loci have been identified on the X chromosome but attempts at finding the responsible gene have not yet been successful. Given that one putative FG locus (FGS2) is situated at Xq28, which is the location of the Filamin A gene (FLNA), and that a Filamin A mutation was reported in a boy with facial dysmorphism and constipation, it was hypothesized that Filamin A mutations could be one cause of FG syndrome. Indeed, a previously unreported FLNA missense mutation (P1291L) was detected in our patient with FG syndrome, thus supporting this hypothesis and indicating that FG syndrome could now be added to the list of Filamin A-related disorders. Filamin A studies in other children with FG syndrome would help to confirm this association.
authors.affiliation: Institute for Human Genetics, University of Freiburg, Freiburg, Germany.
authors.forename: Sheila
authors.initials: S
authors.lastname: Unger
authors.forename: Anita
authors.initials: A
authors.lastname: Mainberger
authors.forename: Christian
authors.initials: C
authors.lastname: Spitz
authors.forename: Anna
authors.initials: A
authors.lastname: Bähr
authors.forename: Christine
authors.initials: C
authors.lastname: Zeschnigk
authors.forename: Bernhard
authors.initials: B
authors.lastname: Zabel
authors.forename: Andrea
authors.initials: A
authors.lastname: Superti-Furga
authors.forename: Deborah J
authors.initials: DJ
authors.lastname: Morris-Rosendahl
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics*; D001003:Anal Canal / Q000002:abnormalities; D001921:Brain / Q000002:abnormalities; D041321:Chromosomes, Human, X; D003285:Contractile Proteins / Q000235:genetics* / Q000378:metabolism; D019066:Facies; D064448:Filamins; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics; D008297:Male; D008840:Microfilament Proteins / Q000235:genetics* / Q000378:metabolism; D009123:Muscle Hypotonia / Q000175:diagnosis / Q000235:genetics; D009154:Mutation; D013577:Syndrome
chemical_list: D003285:Contractile Proteins; D064448:Filamins; D008840:Microfilament Proteins