Italian Rett database and biobank

Sampieri, Katia; Meloni, Ilaria; Scala, Elisa; Ariani, Francesca; Caselli, Rossella; Pescucci, Chiara; Longo, Ilaria; Artuso, Rosangela; Bruttini, Mirella; Mencarelli, Maria Antonietta; Speciale, Caterina; Causarano, Vincenza; Hayek, Joussef; Zappella, Michele; Renieri, Alessandra; Mari, Francesca

doi:10.1002/humu.20453

Cited by 29 publications

(23 citation statements)

References 32 publications

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“…The clinical characteristics of patients with mutations of the FOXG1 gene reported to date are similar, 13,30 although there has been one case report of a child with classical Rett syndrome having a FOXG1 mutation. 25 There is phenotypic overlap between congenital Rett syndrome variants with FOXG1 mutations and the clinical presentation of our three patients with this 14q12 microdeletion, not encompassing the FOXG1 gene.…”

Section: Discussionmentioning

confidence: 92%

14q12 microdeletions excluding FOXG1 give rise to a congenital variant Rett syndrome-like phenotype

Ellaway

Bettella

et al. 2012

Eur J Hum Genet

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Rett syndrome is a clinically defined neurodevelopmental disorder almost exclusively affecting females. Usually sporadic, Rett syndrome is caused by mutations in the X-linked MECP2 gene in B90-95% of classic cases and 40-60% of individuals with atypical Rett syndrome. Mutations in the CDKL5 gene have been associated with the early-onset seizure variant of Rett syndrome and mutations in FOXG1 have been associated with the congenital Rett syndrome variant. We report the clinical features and array CGH findings of three atypical Rett syndrome patients who had severe intellectual impairment, early-onset developmental delay, postnatal microcephaly and hypotonia. In addition, the females had a seizure disorder, agenesis of the corpus callosum and subtle dysmorphism. All three were found to have an interstitial deletion of 14q12. The deleted region in common included the PRKD1 gene but not the FOXG1 gene. Gene expression analysis suggested a decrease in FOXG1 levels in two of the patients. Screening of 32 atypical Rett syndrome patients did not identify any pathogenic mutations in the PRKD1 gene, although a previously reported frameshift mutation affecting FOXG1 (c.256dupC, p.Gln86ProfsX35) was identified in a patient with the congenital Rett syndrome variant. There is phenotypic overlap between congenital Rett syndrome variants with FOXG1 mutations and the clinical presentation of our three patients with this 14q12 microdeletion, not encompassing the FOXG1 gene. We propose that the primary defect in these patients is misregulation of the FOXG1 gene rather than a primary abnormality of PRKD1.

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Section: Discussionmentioning

confidence: 92%

14q12 microdeletions excluding FOXG1 give rise to a congenital variant Rett syndrome-like phenotype

Ellaway

Bettella

et al. 2012

Eur J Hum Genet

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“…The subjects examined in this study followed a typical Mediterranean diet. The study was restricted to assessment of cases with the nine most frequently reported MeCP2 mutations ( 22,23 ) plus large gene deletions.…”

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confidence: 99%

F2-dihomo-isoprostanes as potential early biomarkers of lipid oxidative damage in Rett syndrome

Felice

Signorini

Durand

et al. 2011

Journal of Lipid Research

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“…In this report, we describe the IRSA North American database and compare the findings with existing compilations. [7][8][9][10][11][12][13][14][15][16] Methods IRSA mailed a structured survey to 2994 members in the United States (2736) and Canada (158) requesting specific information including date of birth, diagnosis (typical Rett syndrome, variant or atypical Rett syndrome, not Rett syndrome, or unknown), mutation testing, and testing results, if performed. We had no responses from 1439, yielding 1555 (52%) completed surveys.…”

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confidence: 99%

Rett Syndrome: North American Database

et al. 2007

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The International Rett Syndrome Association (IRSA) North American database is the first comprehensive compilation of information in the United States and Canada on individuals with Rett syndrome or with another diagnosis in association with MECP2 mutations. The database contains specific information by diagnosis, mutation status, and mutation type and frequency on 1928 participants. Among the 1928 participants, 85.5% were typical, 13.4% were atypical, and 1.1% had MECP2 mutations but did not have Rett syndrome. MECP2 mutations were identified in 914 of 1059 participants (86%): 799 of 870 (92%) participants with typical Rett syndrome had an MECP2 mutation, 94 of 162 (58%) with atypical Rett syndrome had a mutation, and all 21 individuals diagnosed as Not Rett syndrome had a mutation. Missense-type mutations (39.0%) were slightly more common than nonsense type (35.1%). Individual mutation frequency for the 8 common mutations varied from 11.9% for T158M to 4.4% for R106W; large deletions accounted for 6.4% and C-terminal truncations occurred in 8.8%. The remaining mutations (14.3%) occurred singly or in small numbers. This database provides a unique resource for expanding our understanding of Rett syndrome, for comparison with other national databases, and for future study including organization of clinical trials based on the expected emergence of fundamental therapies.

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Italian Rett database and biobank

Cited by 29 publications

References 32 publications

14q12 microdeletions excluding FOXG1 give rise to a congenital variant Rett syndrome-like phenotype

14q12 microdeletions excluding FOXG1 give rise to a congenital variant Rett syndrome-like phenotype

F2-dihomo-isoprostanes as potential early biomarkers of lipid oxidative damage in Rett syndrome

Rett Syndrome: North American Database

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