The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome


van der Sluijs P. J. , Jansen S., Vergano S. A. , Adachi-Fukuda M., ALANAY Y. , AlKindy A., et al.

GENETICS IN MEDICINE, cilt.21, ss.1295-1307, 2019 (SCI İndekslerine Giren Dergi)

  • Cilt numarası: 21 Konu: 6
  • Basım Tarihi: 2019
  • Doi Numarası: 10.1038/s41436-018-0330-z
  • Dergi Adı: GENETICS IN MEDICINE
  • Sayfa Sayısı: ss.1295-1307

Özet

Purpose: Pathogenic variants in ARID1B are one of the most frequent causes of intellectual disability (ID) as determined by large-scale exome sequencing studies. Most studies published thus far describe clinically diagnosed Coffin-Siris patients (ARID1BCSS) and it is unclear whether these data are representative for patients identified through sequencing of unbiased ID cohorts (ARID1B-ID). We therefore sought to determine genotypic and phenotypic differences between ARID1B-ID and ARID1B-CSS. In parallel, we investigated the effect of different methods of phenotype reporting.