Pervasive developmental disorder and epilepsy due to maternally derived duplication of 15q11-q13

Gurrieri, Fiorella; Battaglia, Agatino; Torrisi, L; Tancredi, Raffaella; Cavallaro, Ciro; Sangiorgi, Eugenio; Neri, Giovanni

doi:10.1212/wnl.52.8.1694

Cited by 63 publications

(57 citation statements)

References 7 publications

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“…10,9,23,24 These findings suggest that an increased dosage of one or more maternally expressed genes or the lack of one or more paternally expressed genes might cause susceptibility to autism. Now we show that approximately 5% of Rett patients are carriers of both an MECP2 mutation and a 15q11 -q13 rearrangement.…”

Section: Discussionmentioning

confidence: 94%

Three Rett patients with both MECP2 mutation and 15q11–13 rearrangements

et al. 2004

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Autism and Rett syndrome, a severe neurological disorder with autistic behavior, are classified as separate disorders on clinical and etiological ground. Rett syndrome is a monogenic X-linked dominant condition due to de novo mutations in the MECP2 gene, whereas autism is a neurodevelopmental and behavioral disorder with complex genetic basis. Maternally inherited duplications on 15q11-q13 are found in a fraction of autistic children suggesting that an abnormal dosage of gene(s) within this region might cause susceptibility to autism. Now we show that three Rett patients are carriers of both a MECP2 mutation and a 15q11-q13 rearrangement, suggesting that there might be a relationship between autism-related genes and the MECP2 gene.

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Section: Discussionmentioning

confidence: 94%

Three Rett patients with both MECP2 mutation and 15q11–13 rearrangements

et al. 2004

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“…Regarding additional behavioural problems, a severe hyperactivity is often noticed. [19][20][21][22][23][24][25][26] Deletions of the maternal or paternal chromosome 15q11-13 regions are associated with two cytogenetic imprinting disorders, Angelman syndrome and Prader-Willi syndrome (PWS). Genomic imprinting describes the phenomenon of differences in gene expression between the allele inherited from the mother and the allele inherited from the father.…”

Section: Cytogenetic Findings and Genetic Syndromes In Admentioning

confidence: 99%

The genetics of autistic disorders and its clinical relevance: a review of the literature

2006

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Twin and family studies in autistic disorders (AD) have elucidated a high heritability of the narrow and broad phenotype of AD. In this review on the genetics of AD, we will initially delineate the phenotype of AD and discuss aspects of differential diagnosis, which are particularly relevant with regard to the genetics of autism. Cytogenetic and molecular genetic studies will be presented in detail, and the possibly involved aetiopathological pathways will be described. Implications of the different genetic findings for genetic counselling will be mentioned.

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“…A large number of 15q11-q13 rearrangements of autistic patients which were evaluated for their parental origin were identified as maternally derived 6,8,10,12,13 . However, in this work is not possible to establish the parental origin of the extra chromosome.…”

Section: Discussionmentioning

confidence: 99%

“…Similar to most behavioral syndromes, autism is etiologically heterogeneous and has been associated with a diverse set of infectious diseases such as rubella embryopathy and herpes encephalitis, or genetic conditions such as phenylketonuria, tuberous sclerosis, and fragile X syndrome 1 . However, trisomy or tetrasomy of the 15q11-q13 region has also been reported in some autistic patients with varying degrees of mental retardation [4][5][6][7][8][9][10][11][12] . Abnormalities involving this chromosomal region are commonly identified in association to Prader-Willi syndrome (PWS) and Angelman syndrome (AS), usually as chromosomal deletion.…”

mentioning

confidence: 99%

Tetrasomy 15q11-q13 identified by fluorescence in situ hybridization in a patient with autistic disorder

Silva

Vayego-Lourenço

Fett‐Conte

et al. 2002

Arq. Neuro-Psiquiatr.

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-We report a female child with tetrasomy of the 15q11-q13 chromosomal region, and autistic disorder associated with mental retardation, developmental problems and behavioral disorders. Combining classical and molecular cytogenetic approaches by fluorescence in situ hybridization technique, the karyotype was demonstrated as 47,XX,+mar.ish der(15)(D15Z1++,D15S11++,GABRB3++,PML-). Duplication of the 15q proximal segment represents the most consistent chromosomal abnormality reported in association with autism. The contribution of the GABA receptor subunit genes, and other genes mapped to this region, to the clinical symptoms of the disease is discussed.KEY WORDS: tetrasomy 15, 15q11-q13, autism, fluorescence in situ hybridization, GABA receptors.Identificação de tetrassomia 15q11-q13 por hibridação in situ fluorescente em uma paciente com distúrbio autístico RESUMO -Relatamos uma criança do sexo feminino com tetrassomia da região cromossômica 15q11-q13 e distúrbio autístico associado com retardo mental, problemas de desenvolvimento e distúrbios comportamentais. A combinação de metodologias da citogenética clássica e molecular pela técnica de hibridação in situ fluorescente, demonstrou o cariótipo como 47,XX,+mar.ish der(15) (D15Z1++,D15S11++,GABRB3++,PML). Duplicação do segmento 15q proximal representa a mais consistente anomalia cromossômica relatada em associação com autismo. A contribuição dos genes das subunidades do recepetor GABA, assim como outros genes mapeados nessa região, para os sintomas clínicos da doença é discutida. PALAVRAS-CHAVE: tetrassomia 15, 15q11-q13, autismo, hibridação in situ fluorescente, receptores GABA.

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Pervasive developmental disorder and epilepsy due to maternally derived duplication of 15q11-q13

Cited by 63 publications

References 7 publications

Three Rett patients with both MECP2 mutation and 15q11–13 rearrangements

Three Rett patients with both MECP2 mutation and 15q11–13 rearrangements

The genetics of autistic disorders and its clinical relevance: a review of the literature

Tetrasomy 15q11-q13 identified by fluorescence in situ hybridization in a patient with autistic disorder

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