Article: article d'un périodique ou d'un magazine.
Etude de cas (case report): rapporte une observation et la commente brièvement.
Filamin A mutation is one cause of FG syndrome.
American Journal of Medical Genetics. Part A
Date de publication
Publication types: Case Reports ; Journal Article Publication Status: ppublish
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.
Abnormalities, Multiple/diagnosis, Abnormalities, Multiple/genetics, Anal Canal/abnormalities, Brain/abnormalities, Chromosomes, Human, X, Contractile Proteins/genetics, Contractile Proteins/metabolism, Facies, Humans, Infant, Male, Mental Retardation/diagnosis, Mental Retardation/genetics, Microfilament Proteins/genetics, Microfilament Proteins/metabolism, Muscle Hypotonia/diagnosis, Muscle Hypotonia/genetics, Mutation, Syndrome
Web of science
Création de la notice
Dernière modification de la notice