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Filamin A mutation is one cause of FG syndrome
Author(s) -
Unger Sheila,
Mainberger Anita,
Spitz Christian,
Bähr Anna,
Zeschnigk Christine,
Zabel Bernhard,
SupertiFurga Andrea,
MorrisRosendahl Deborah J.
Publication year - 2007
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.31751
Subject(s) - filamin , mutation , genetics , biology , gene , cytoskeleton , cell
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. © 2007 Wiley‐Liss, Inc.