FG syndrome, an X-linked multiple congenital anomaly syndrome: the clinical phenotype and an algorithm for diagnostic testing.

Genet Med 2009 Nov;11(11):769-75

Division of Medical Genetics, Department of Pediatrics, Loma Linda University Medical Center, Loma Linda, CA 92354, USA.

FG syndrome is a rare X-linked multiple congenital anomaly-cognitive impairment disorder caused by the p.R961W mutation in the MED12 gene. We identified all known patients with this mutation to delineate their clinical phenotype and devise a clinical algorithm to facilitate molecular diagnosis. We ascertained 23 males with the p.R961W mutation in MED12 from 9 previously reported FG syndrome families and 1 new family. Six patients are reviewed in detail. These 23 patients were compared with 48 MED12 mutation-negative patients, who had the clinical diagnosis of FG syndrome. Traits that best discriminated between these two groups were chosen to develop an algorithm with high sensitivity and specificity for the p.R961W MED12 mutation. FG syndrome has a recognizable dysmorphic phenotype with a high incidence of congenital anomalies. A family history of X-linked mental retardation, deceased male infants, and/or multiple fetal losses was documented in all families. The algorithm identifies the p.R961W MED12 mutation-positive group with 100% sensitivity and 90% specificity. The clinical phenotype of FG syndrome defines a recognizable pattern of X-linked multiple congenital anomalies and cognitive impairment. This algorithm can assist the clinician in selecting the patients for testing who are most likely to have the recurrent p.R961W MED12 mutation.

Download full-text PDF

Source
http://www.nature.com/doifinder/10.1097/GIM.0b013e3181bd3d90
Publisher Site
http://dx.doi.org/10.1097/GIM.0b013e3181bd3d90DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4113033PMC
November 2009

Publication Analysis

Top Keywords

multiple congenital
12
clinical phenotype
12
x-linked multiple
12
pr961w med12
12
congenital anomalies
8
mutation med12
8
med12 mutation
8
pr961w mutation
8
syndrome
7
med12
6
mutation
5
pr961w
5
algorithm
5
patients
5
clinical
5
groups chosen
4
specificity clinical
4
discriminated groups
4
phenotype syndrome
4
chosen develop
4

Similar Publications