Fried syndrome is a distinct X linked mental retardation syndrome mapping to Xp22.

Strain, Lisa; Wright, A F; Bonthron, David T.

doi:10.1136/jmg.34.7.535

Cited by 25 publications

(16 citation statements)

References 31 publications

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“…The developmental abnormalities may include microcephaly that is probably postnatal, hydrocephalus 11,12 (and this report), periventricular nodular heterotopia (novel in this report) and cerebellar-posterior fossa anomalies. The cerebellar and posterior fossa defects were barely evaluated in prior reports, but at least one individual had CBVH 13 and another had a 'posterior arachnoid cyst' seen on CT scan 10 that we suspect was not a normal variant.…”

Section: Discussionmentioning

confidence: 99%

“…[8][9][10] The phenotype was expanded in a report of two families including the original Scottish family with Fried syndrome (MIM 300630) with highly variable XLID as well as hydrocephalus and basal ganglia calcifications. [11][12][13] Elevated CSF protein levels were also added to the clinical description, 14 although only two patients were analyzed for that specific biochemical characteristic. The disorder studied here was first reported in 1991 as XLID with Dandy-Walker malformation, basal ganglia disease and seizures, 3 and subsequently designated as MRXS5 or Pettigrew syndrome (MIM 304340).…”

Section: Discussionmentioning

confidence: 99%

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AP1S2 is mutated in X-linked Dandy–Walker malformation with intellectual disability, basal ganglia disease and seizures (Pettigrew syndrome)

et al. 2013

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MRXS5 or Pettigrew syndrome was described 20 years ago in a four generation family including nine affected individuals presenting with facial dysmorphism, intellectual disability, Dandy-Walker malformation and inconstant choreoathetosis. Four individuals had iron deposition in the basal ganglia seen on MRI or at autopsy. The mutation causing Pettigrew has remained elusive since the initial description of the condition. We report the identification of a mutation in the X-linked AP1S2 gene in the original Pettigrew syndrome family using X-chromosome exome sequencing. We report additional phenotype details for several of the affected individuals, allowing us to further refine the phenotype corresponding to this X-linked intellectual disability syndrome. The AP1S2 c.426 þ 1 G4T mutation segregates with the disease in the Pettigrew syndrome family and results in loss of 46 amino acids in the clathrin adaptor complex small chain domain that spans most of the AP1S2 protein sequence. The mutation reported here in AP1S2 is the first mutation that is not predicted to cause a premature termination of the coding sequence or absence of the AP1S2 protein. Although most of the families affected by a mutation in AP1S2 were initially described as having different disorders assigned to at least three different OMIM numbers (MIM 300629, 300630 and 304340), our analysis of the phenotype shows that they are all the same syndrome with recognition complicated by highly variable expressivity that is seen within as well as between families and is probably not explained by differences in mutation severity.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

AP1S2 is mutated in X-linked Dandy–Walker malformation with intellectual disability, basal ganglia disease and seizures (Pettigrew syndrome)

et al. 2013

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“…Affected males had mild-to-profound MR, hypotonia early in life, delayed walking, speech delay, and aggressive behavior [Carpenter et al, 1999;Turner et al, 2003;Tarpey et al, 2006;Saillour et al, 2007]. Interestingly, patients from 1 of the 5 families had been diagnosed with Fried syndrome, a distinct XLMR syndrome further characterized by basal ganglia calcifications, hydrocephalus, and spasticity [Fried, 1972;Strain et al, 1997;Saillour et al, 2007].…”

Section: Introductionmentioning

confidence: 95%

Clinical, cellular, and neuropathological consequences ofAP1S2mutations: further delineation of a recognizable X-linked mental retardation syndrome

et al. 2008

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Mutations in the AP1S2 gene, encoding the sigma1B subunit of the clathrin-associated adaptor protein complex (AP)-1, have been recently identified in five X-linked mental retardation (XLMR) families, including the original family with Fried syndrome. Studying four patients in two unrelated families in which AP1S2 nonsense and splice-site mutations segregated, we found that affected individuals presented, in addition to previously described features, with elevated protein levels in cerebrospinal fluid (CSF). Moreover, computed tomography scans demonstrated that the basal ganglia calcifications associated with AP1S2 mutations appeared during childhood and might be progressive. Based on these observations, we propose that AP1S2 mutations are responsible for a clinically recognizable XLMR and autism syndrome associating hypotonia, delayed walking, speech delay, aggressive behavior, brain calcifications, and elevated CSF protein levels. Using the AP-2 complex, in which the sigma subunit is encoded by one single gene, as a model system, we demonstrated that sigma subunits are essential for the stability of human AP complexes. By contrast, no major alteration of the stability, subcellular localization, and function of the AP-1 complex was observed in fibroblasts derived from a patient carrying an AP1S2 mutation. Similarly, neither macro- nor microscopic defects were observed in the brain of an affected fetus. Altogether, these data suggest that the absence of an AP-1 defect in peripheral tissues is due to functional redundancy among AP-1 sigma subunits (sigma1A, sigma1B, and sigma1C) and that the phenotype observed in our patients results from a subtle and brain-specific defect of the AP-1-dependent intracellular protein traffic.

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“…Numerous disease genes have been localized to the 1.3-Mb Xp22.2 region between DXS418 and DXS999 including X-linked juvenile retinoschisis (RS, MIM312700) (George et al, 1995;Pawar et al, 1996), Nance-Horan syndrome (NHS; MIM302350) (Toutain et al, 1997), sensorineural deafness (DFN6; MIM 300066) (Del Castillo et al, 1996), nonspecific X-linked mental retardation (MRX19) (Donnelly et al, 1994), oral-facialdigital syndrome type 1 (OFD1, MIM 311200) (Feather et al, 1997), and Fried syndrome (MIM 309530) (Strain et al, 1997). The region has been characterized by construction of several physical maps including yeast artificial chromosome (YAC) contigs, P1-derived artificial chromosome contigs, and restriction maps (Alitalo et al, 1995;Ferrero et al, 1995;van de Vosse et al, 1996;Walpole et al, 1997).…”

Section: Introductionmentioning

confidence: 99%

Identification and Characterization of the Human Homologue (RAI2) of a Mouse Retinoic Acid-Induced Gene in Xp22

et al. 1999

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Fried syndrome is a distinct X linked mental retardation syndrome mapping to Xp22.

Abstract: (JMed Genet 1997;34:535-540)

Cited by 25 publications

References 31 publications

AP1S2 is mutated in X-linked Dandy–Walker malformation with intellectual disability, basal ganglia disease and seizures (Pettigrew syndrome)

AP1S2 is mutated in X-linked Dandy–Walker malformation with intellectual disability, basal ganglia disease and seizures (Pettigrew syndrome)

Clinical, cellular, and neuropathological consequences ofAP1S2mutations: further delineation of a recognizable X-linked mental retardation syndrome

Identification and Characterization of the Human Homologue (RAI2) of a Mouse Retinoic Acid-Induced Gene in Xp22

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