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Inherited germline ATRX mutation in two brothers with ATR-X syndrome and osteosarcoma.
Ji, Jianling; Quindipan, Catherine; Parham, David; Shen, Lishuang; Ruble, David; Bootwalla, Moiz; Maglinte, Dennis T; Gai, Xiaowu; Saitta, Sulagna C; Biegel, Jaclyn A; Mascarenhas, Leo.
Afiliación
  • Ji J; Department of Pathology and Laboratory Medicine, Center for Personalized Medicine, Children's Hospital Los Angeles, Los Angeles, California.
  • Quindipan C; Department of Pathology, Keck School of Medicine, University of Southern California, Los Angeles, California.
  • Parham D; Department of Pathology and Laboratory Medicine, Center for Personalized Medicine, Children's Hospital Los Angeles, Los Angeles, California.
  • Shen L; Department of Pathology, Keck School of Medicine, University of Southern California, Los Angeles, California.
  • Ruble D; Department of Pediatrics, Keck School of Medicine, University of Southern California, Los Angeles, California.
  • Bootwalla M; Department of Pathology and Laboratory Medicine, Center for Personalized Medicine, Children's Hospital Los Angeles, Los Angeles, California.
  • Maglinte DT; Department of Pathology and Laboratory Medicine, Center for Personalized Medicine, Children's Hospital Los Angeles, Los Angeles, California.
  • Gai X; Department of Pathology and Laboratory Medicine, Center for Personalized Medicine, Children's Hospital Los Angeles, Los Angeles, California.
  • Saitta SC; Department of Pathology and Laboratory Medicine, Center for Personalized Medicine, Children's Hospital Los Angeles, Los Angeles, California.
  • Biegel JA; Department of Pathology and Laboratory Medicine, Center for Personalized Medicine, Children's Hospital Los Angeles, Los Angeles, California.
  • Mascarenhas L; Department of Pathology, Keck School of Medicine, University of Southern California, Los Angeles, California.
Am J Med Genet A ; 173(5): 1390-1395, 2017 May.
Article en En | MEDLINE | ID: mdl-28371217
We report a family in which two brothers had an undiagnosed genetic disorder comprised of dysmorphic features, microcephaly, severe intellectual disability (non-verbal), mild anemia, and cryptorchidism. Both developed osteosarcoma. Trio exome sequencing (using blood samples from the younger brother and both parents) was performed and a nonsense NM_000489.4:c.7156C>T (p.Arg2386*) mutation in the ATRX gene was identified in the proband (hemizygous) and in the mother's peripheral blood DNA (heterozygous). The mother is healthy, does not exhibit any clinical manifestations of ATR-X syndrome and there was no family history of cancer. The same hemizygous pathogenic variant was confirmed in the affected older brother's skin tissue by subsequent Sanger sequencing. Chromosomal microarray studies of both brothers' osteosarcomas revealed complex copy number alterations consistent with the clinical diagnosis of osteosarcoma. Recently, somatic mutations in the ATRX gene have been observed as recurrent alterations in both osteosarcoma and brain tumors. However, it is unclear if there is any association between osteosarcoma and germline ATRX mutations, specifically in patients with constitutional ATR-X syndrome. This is the first report of osteosarcoma diagnosed in two males with ATR-X syndrome, suggesting a potential increased risk for cancer in patients with this disorder.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Proteínas Nucleares / Osteosarcoma / Talasemia alfa / ADN Helicasas / Discapacidad Intelectual Ligada al Cromosoma X / Discapacidad Intelectual Tipo de estudio: Prognostic_studies Límite: Adolescent / Adult / Female / Humans / Male Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2017 Tipo del documento: Article Pais de publicación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Proteínas Nucleares / Osteosarcoma / Talasemia alfa / ADN Helicasas / Discapacidad Intelectual Ligada al Cromosoma X / Discapacidad Intelectual Tipo de estudio: Prognostic_studies Límite: Adolescent / Adult / Female / Humans / Male Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2017 Tipo del documento: Article Pais de publicación: Estados Unidos