AUTS2 Syndrome in a 68-year-old female: Natural history and further delineation of the phenotype
American Journal of Medical Genetics, Part A, cilt.170, sa.12, ss.3231-3236, 2016 (SCI-Expanded, Scopus)
- 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: autism spectrum disorder, AUTS2, developmental delay, intellectual disability
- Maltepe Üniversitesi Adresli: Hayır
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.” © 2016 Wiley Periodicals, Inc.