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Breakpoint analysis for cytogenetically balanced translocation revealed unexpected complex structural abnormalities and suggested the position effect for MEF2C.
Tamura, Takeaki; Shimojima Yamamoto, Keiko; Imaizumi, Taichi; Yamamoto, Hisako; Miyamoto, Yusaku; Yagasaki, Hiroshi; Morioka, Ichiro; Kanno, Hitoshi; Yamamoto, Toshiyuki.
Afiliación
  • Tamura T; Department of Pediatrics and Child Health, Nihon University School of Medicine, Tokyo, Japan.
  • Shimojima Yamamoto K; Division of Gene Medicine, Graduate School of Medical Science, Tokyo Women's Medical University, Tokyo, Japan.
  • Imaizumi T; Department of Transfusion Medicine and Cell Processing, Tokyo Women's Medical University, Tokyo, Japan.
  • Yamamoto H; Department of Transfusion Medicine and Cell Processing, Tokyo Women's Medical University, Tokyo, Japan.
  • Miyamoto Y; Institute of Medical Genetics, Tokyo Women's Medical University, Tokyo, Japan.
  • Yagasaki H; Department of Pediatrics, St. Marianna University School of Medicine, Kawasaki, Japan.
  • Morioka I; Department of Pediatrics, St. Marianna University School of Medicine, Kawasaki, Japan.
  • Kanno H; Department of Pediatrics, St. Marianna University School of Medicine, Kawasaki, Japan.
  • Yamamoto T; Department of Pediatrics and Child Health, Nihon University School of Medicine, Tokyo, Japan.
Am J Med Genet A ; 191(6): 1632-1638, 2023 06.
Article en En | MEDLINE | ID: mdl-36916329
Many disease-causing genes have been identified by determining the breakpoints of balanced chromosomal translocations. Recent progress in genomic analysis has accelerated the analysis of chromosomal translocation-breakpoints at the nucleotide level. Using a long-read whole-genome sequence, we analyzed the breakpoints of the cytogenetically balanced chromosomal translocation t(5;15)(q21;26.3), which was confirmed to be of de novo origin, in a patient with a neurodevelopmental disorder. The results showed complex rearrangements with seven fragments consisting of five breakpoint-junctions (BJs). Four of the five BJs showed microhomologies of 1-3-bp, and only one BJ displayed a signature of blunt-end ligation, indicating chromothripsis as the underlying mechanism. Although the BJs did not disrupt any disease-causing gene, the clinical features of the patient were compatible with MEF2C haploinsufficiency syndrome. Complex rearrangements were located approximately 2.5-Mb downstream of MEF2C. Therefore, position effects were considered the mechanism of the occurrence of MEF2C haploinsufficiency syndrome.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Translocación Genética / Trastornos del Neurodesarrollo Tipo de estudio: Prognostic_studies Límite: Humans / Infant / Male Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2023 Tipo del documento: Article País de afiliación: Japón Pais de publicación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Translocación Genética / Trastornos del Neurodesarrollo Tipo de estudio: Prognostic_studies Límite: Humans / Infant / Male Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2023 Tipo del documento: Article País de afiliación: Japón Pais de publicación: Estados Unidos