Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism


Ansari M., Poke G., Ferry Q., Williamson K., Aldridge R., Meynert A. M. , ...Daha Fazla

JOURNAL OF MEDICAL GENETICS, cilt.51, ss.659-668, 2014 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 51 Konu: 10
  • Basım Tarihi: 2014
  • Doi Numarası: 10.1136/jmedgenet-2014-102573
  • Dergi Adı: JOURNAL OF MEDICAL GENETICS
  • Sayfa Sayıları: ss.659-668

Özet

Background Cornelia de Lange syndrome (CdLS) is a multisystem disorder with distinctive facial appearance, intellectual disability and growth failure as prominent features. Most individuals with typical CdLS have de novo heterozygous loss-of-function mutations in NIPBL with mosaic individuals representing a significant proportion. Mutations in other cohesin components, SMC1A, SMC3, HDAC8 and RAD21 cause less typical CdLS.