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, sa.10, ss.659-668, 2014 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 51 Sayı: 10
  • Basım Tarihi: 2014
  • Doi Numarası: 10.1136/jmedgenet-2014-102573
  • Dergi Adı: JOURNAL OF MEDICAL GENETICS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.659-668
  • İstanbul Üniversitesi Adresli: Evet

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.