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

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

GENETICS IN MEDICINE, cilt.21, sa.6, ss.1295-1307, 2019 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 21 Sayı: 6
  • Basım Tarihi: 2019
  • Doi Numarası: 10.1038/s41436-018-0330-z
  • Dergi Adı: GENETICS IN MEDICINE
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.1295-1307
  • Anahtar Kelimeler: ARID1B, Coffin-Siris syndrome, intellectual disability, bias, CHROMATIN-REMODELING COMPLEX, MUTATIONS, PHENOTYPE
  • Acıbadem Mehmet Ali Aydınlar Üniversitesi Adresli: Evet

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.