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

Genetics in Medicine : Official Journal of the American College of Medical Genetics
Robin D ClarkR E Stevenson

Abstract

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 t...Continue Reading

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Citations

Mar 20, 2015·American Journal of Medical Genetics. Part a·Jesse M HunterLisa Baumbach-Reardon
Oct 15, 2013·American Journal of Medical Genetics. Part a·John M Graham, Charles E Schwartz
Mar 4, 2011·EMBO Reports·Anthony J TurnerNatalia N Nalivaeva
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Feb 12, 2013·American Journal of Human Genetics·Anneke T Vulto-van SilfhoutArjan P M de Brouwer
Apr 10, 2012·American Journal of Human Genetics·Herbert A LubsCharles E Schwartz
Jun 12, 2016·European Journal of Medical Genetics·Trine E PrescottAsbjørg Stray-Pedersen
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Oct 29, 2010·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·John M GrahamR Curtis Rogers
Jul 21, 2017·JCI Insight·Kedryn K BaskinEric N Olson
Feb 8, 2019·Molecular Genetics & Genomic Medicine·Siddharth SrivastavaTao Wang
Nov 28, 2020·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Dong LiElizabeth Bhoj
Nov 28, 2020·Genetics in Medicine : Official Journal of the American College of Medical Genetics·D L PollaA P M de Brouwer
Jul 8, 2021·European Journal of Pediatrics·Francesca Di CandiaDaniela Melis
Dec 16, 2021·European Journal of Pediatric Surgery : Official Journal of Austrian Association of Pediatric Surgery ... [et Al] = Zeitschrift Für Kinderchirurgie·Carlo MarcelisIris A L M van Rooij

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