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De novo 5q14.3 translocation 121.5-kb upstream of MEF2C in a patient with severe intellectual disability and early-onset epileptic encephalopathy.
Saitsu, Hirotomo; Igarashi, Noboru; Kato, Mitsuhiro; Okada, Ippei; Kosho, Tomoki; Shimokawa, Osamu; Sasaki, Yuki; Nishiyama, Kiyomi; Tsurusaki, Yoshinori; Doi, Hiroshi; Miyake, Noriko; Harada, Naoki; Hayasaka, Kiyoshi; Matasumoto, Naomichi.
Afiliação
  • Saitsu H; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan. hsaitsu@yokohama-cu.ac.jp
Am J Med Genet A ; 155A(11): 2879-84, 2011 Nov.
Article em En | MEDLINE | ID: mdl-21990267
Recent studies have shown that haploinsufficiency of MEF2C causes severe intellectual disability, epilepsy, hypotonia, and cerebral malformations. We report on a female patient with severe intellectual disability, early-onset epileptic encephalopathy, and hypoplastic corpus callosum, possessing a de novo balanced translocation, t(5;15)(q13.3;q26.1). The patient showed upward gazing and tonic seizure of lower extremities followed by generalized clonic seizures at 4 months of age. Electroencephalogram showed hypsarrhythmia when asleep. By using fluorescent in situ hybridization (FISH), southern hybridization and inverse PCR, the translocation breakpoints were determined at the nucleotide level. The 5q14.3 breakpoint was localized 121.5-kb upstream of MEF2C. The 15q26.2 breakpoint was mapped 119-kb downstream of LOC91948 non-coding RNA. We speculate that the translocation may disrupt the proper regulation of MEF2C expression in the developing brain, resulting in severe intellectual disability and early-onset epileptic encephalopathy.
Assuntos

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Translocação Genética / Cromossomos Humanos Par 5 / Fatores de Regulação Miogênica / Proteínas de Domínio MADS / Epilepsia / Deficiência Intelectual Limite: Child / Child, preschool / Female / Humans / Infant Idioma: En Ano de publicação: 2011 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Translocação Genética / Cromossomos Humanos Par 5 / Fatores de Regulação Miogênica / Proteínas de Domínio MADS / Epilepsia / Deficiência Intelectual Limite: Child / Child, preschool / Female / Humans / Infant Idioma: En Ano de publicação: 2011 Tipo de documento: Article