A gene for FG syndrome maps in the Xq12-q21.31 region

Briault, Sylvain; Hill, Reba M.; Shrimpton, Antony E.; Zhu, Daocheng; Till, Marianne; Ronce, Nathalie; Margaritte‐Jeannin, Patricia; Baraitser, M; Middleton‐Price, Helen; Malcolm, Sue; Thompson, Elizabeth; Hoo, Joe J.; Wilson, Golder N.; Romano, Corrado; Guichet, Agnès; Pembrey, Marcus; Fontés, Michel; Poustka, Annemarie; Moraine, Claude

doi:10.1002/(sici)1096-8628(19971128)73:1<87::aid-ajmg17>3.0.co;2-n

Cited by 51 publications

(37 citation statements)

References 16 publications

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“…We recently described clinical findings in three additional families with FG syndrome and confirmed the localization of a gene for the FG syndrome in Xq12-q21 [Briault et al, 1997;Graham et al, 1998]. Using these same families and one additional sporadic case of FG syndrome, herein we compare the behavior and personality characteristics of six FG boys with other agematched mentally retarded boys with Down syndrome, Prader-Willi syndrome, nonspecific mental retardation, and Williams syndrome.…”

Section: Introductionmentioning

confidence: 62%

Clinical and behavioral characteristics in FG syndrome

Graham¹,

Superneau²,

Rogers³

et al. 1999

Am. J. Med. Genet.

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FG syndrome is a rare X-linked recessive form of mental retardation, first described by Opitz and Kaveggia in 1974. Based on over 50 reported cases, FG syndrome is associated with agenesis of the corpus callosum, minor facial anomalies (high, broad forehead with frontal cowlick, ocular hypertelorism, down-slanted palpebral fissures, and small cupped auricles), relative macrocephaly, broad thumbs and halluces, and prominent fetal fingertip pads. Affected individuals manifest neonatal hypotonia and severe constipation, which usually resolves during mid-childhood. The hypotonia with joint hyperlaxity evolves into spasticity with joint contractures in later life. Affability, hyperactivity, and excessive talkativeness are noted frequently in patients with FG syndrome. Recently, we described three additional families (six additional patients) with FG syndrome who support the localization of a gene for the FG syndrome in chromosome region Xq12-q21 [Graham JM Jr, Tackels D, Dibbern K, Superneau D, Rodgers C, Corning K, Schwartz CE. 1998. Am J Med Genet 80:145-156.]. Using these same families and one additional sporadic case of FG syndrome, we compared behavioral and personality characteristics of 6 FG boys with other boys with syndromic and nonsyndromic mental retardation: eight with Down syndrome, seven with Prader-Willi syndrome, eight with nonspecific mental retardation, and 13 with Williams syndrome. Using the Vineland Adaptive Behavior Scales, the Reiss Personality Profiles, and the Achenbach Child Behavior Checklist, parents were asked to characterize the behavior and personality of their boys from ages 4 to 10 years. When compared with Williams syndrome, the FG boys had fewer internalizing behaviors and were significantly less anxious and withdrawn but had similar socially oriented, attention-seeking behaviors. On the Reiss Profile, FG boys were also quite similar to Williams syndrome boys. On the Vineland Scales, FG boys demonstrated significant relative strengths in their socialization skills, consistent with their personality, tending to confirm previous descriptions of their personalities.

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Section: Introductionmentioning

confidence: 62%

Clinical and behavioral characteristics in FG syndrome

Graham¹,

Superneau²,

Rogers³

et al. 1999

Am. J. Med. Genet.

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“…One candidate gene for the FG syndrome could be mapped to chromosome Xq13 (24). In the same linkage analysis, genetic heterogeneity was shown.…”

Section: Discussionmentioning

confidence: 88%

A microdeletion syndrome due to a 3‐Mb deletion on 19q13.2 – Diamond–Blackfan anemia associated with macrocephaly, hypotonia, and psychomotor retardation

et al. 1999

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We report on a boy with congenital pure red blood cell aplasia [Diamond Blackfan anemia (DBA)] and severe congenital hypotonia, macrocephaly, hypertelorism, a broad and tall forehead, medial epicanthus, and facial hypotonia with mouth-breathing and drooling, an affable and out-going personality, and a general psychomotor retardation. These features show similarity to the phenotype of the X-linked FG syndrome. DBA was diagnosed at the age of 4 months, and the boy underwent treatment with transfusion and with prednisolone. He had a normal 46, XY karyotype, but fluorescence in situ hybridization (FISH) analysis to metaphase chromosomes revealed a 3-Mb deletion on 19q13.2. This chromosomal region has previously been linked to the DBA phenotype and one 19q13 microdeletion has been identified in a patient with DBA. This deletion coincides with the deletion reported here. We suggest that the complex phenotype of our patient, including both DBA and the associated features, represent a microdeletion syndrome.

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“…The patient, III-1, now 17 years old, is Patient 3 in the report of Briault et al 7 His birth at 35 weeks’ gestation was complicated by asphyxia and intraventricular hemorrhage. He was hypotonic at birth.…”

Section: Patient Summariesmentioning

confidence: 98%

“…Family 1 has not been reported previously. Family 2, III-1 was included in the report of Briault et al 7 Family 3, IV-1 was reported by Lyons et al 3 Family 4, III-2, III-4, III-5, III-9, and III-10 (the original FG family) were reported first by Opitz and Kaveggia. 1 Family 4, III-11 was first reported by Riccardi et al 5 as patient I-6.…”

Section: Figmentioning

confidence: 99%

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

Clark

Graham

Friez

et al. 2009

Genetics in Medicine

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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% spec-ificity. 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.

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A gene for FG syndrome maps in the Xq12-q21.31 region

Cited by 51 publications

References 16 publications

Clinical and behavioral characteristics in FG syndrome

Clinical and behavioral characteristics in FG syndrome

A microdeletion syndrome due to a 3‐Mb deletion on 19q13.2 – Diamond–Blackfan anemia associated with macrocephaly, hypotonia, and psychomotor retardation

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

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