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Confirmation of BRD4 haploinsufficiency role in Cornelia de Lange-like phenotype and delineation of a 19p13.12p13.11 gene contiguous syndrome.
Alesi, Viola; Dentici, Maria Lisa; Loddo, Sara; Genovese, Silvia; Orlando, Valeria; Calacci, Chiara; Pompili, Daniele; Dallapiccola, Bruno; Digilio, Maria Cristina; Novelli, Antonio.
Afiliação
  • Alesi V; Medical Genetics Department, Bambino Gesù Children's Hospital, Rome, Italy.
  • Dentici ML; Medical Genetics Department, Bambino Gesù Children's Hospital, Rome, Italy.
  • Loddo S; Medical Genetics Department, Bambino Gesù Children's Hospital, Rome, Italy.
  • Genovese S; Medical Genetics Department, Bambino Gesù Children's Hospital, Rome, Italy.
  • Orlando V; Medical Genetics Department, Bambino Gesù Children's Hospital, Rome, Italy.
  • Calacci C; Medical Genetics Department, Bambino Gesù Children's Hospital, Rome, Italy.
  • Pompili D; Medical Genetics Department, Bambino Gesù Children's Hospital, Rome, Italy.
  • Dallapiccola B; Medical Genetics Department, Bambino Gesù Children's Hospital, Rome, Italy.
  • Digilio MC; Medical Genetics Department, Bambino Gesù Children's Hospital, Rome, Italy.
  • Novelli A; Medical Genetics Department, Bambino Gesù Children's Hospital, Rome, Italy.
Ann Hum Genet ; 83(2): 100-109, 2019 03.
Article em En | MEDLINE | ID: mdl-30302754
Cornelia de Lange syndrome (CdLS) is a genetically and clinical heterogeneous condition characterized by congenital malformation, intellectual disability, and peculiar dysmorphic features. Recently, BRD4 (19p13.12) was proposed as a new critical gene associated with a mild CdLS because of a similar presentation of the patients carrying point mutations and of its involvement in the NIPBL pathway. Patients harboring a 19p interstitial deletion shared some physical features with BRD4 mutation carriers, which results in a more complex phenotype because of the involvement of several neighboring genes. We report a new 19p deletion in a patient clinically diagnosed as CdLS, partially overlapping with previously published cases with the aim to support the role of BRD4 haploinsufficiency in a CdL-like phenotype and to improve the delineation of 19p13.12p13.11 deletion as a new nonrecurrent gene contiguous syndrome, spanning GIPC1, NOTCH3, BRD4, AKAP8, AKAP8L, CASP14, and EPS15L1 genes. Previously described cases are reviewed, attempting to delineate a genotype-phenotype correlation.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fatores de Transcrição / Proteínas de Ciclo Celular / Síndrome de Cornélia de Lange / Haploinsuficiência Limite: Child, preschool / Female / Humans / Infant / Newborn Idioma: En Ano de publicação: 2019 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fatores de Transcrição / Proteínas de Ciclo Celular / Síndrome de Cornélia de Lange / Haploinsuficiência Limite: Child, preschool / Female / Humans / Infant / Newborn Idioma: En Ano de publicação: 2019 Tipo de documento: Article