AUTS2 Syndrome in a 68-Year-Old Female: Natural History and Further Delineation of the Phenotype

Sengun E., Yararbas K., Kasakyan S., ALANAY Y.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, cilt.170, sa.12, ss.3231-3236, 2016 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 170 Sayı: 12
  • Basım Tarihi: 2016
  • Doi Numarası: 10.1002/ajmg.a.37882
  • Dergi Adı: AMERICAN JOURNAL OF MEDICAL GENETICS PART A
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.3231-3236
  • Anahtar Kelimeler: AUTS2, intellectual disability, autism spectrum disorder, developmental delay, COMPARATIVE GENOMIC HYBRIDIZATION, AUTISM SPECTRUM DISORDERS, AUTISM-SUSCEPTIBILITY-CANDIDATE-2 AUTS2, DEVELOPMENTAL DELAY, GENE AUTS2, SUSCEPTIBILITY, ASSOCIATION, DELETION, PATIENT, HUMANS
  • Acıbadem Mehmet Ali Aydınlar Üniversitesi Adresli: Evet

Özet

Here we summarize the clinical and molecular findings in a 68-year-old female with dysmorphic features, mild-to-moderate intellectual disability, and behavioral findings suggesting autism spectrum disorder. SNP array analysis demonstrated a 257 kb deletion comprising exon 6 of AUTS2. This clinical report provides the natural history in the eldest patient yet to be reported, and complements the existing evidence suggesting that disruption of the AUTS2 leads to a recently delineated neurodevelopmental phenotype with a wide spectrum, namely "AUTS2 Syndrome." (C) 2016 Wiley Periodicals, Inc.