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AUTS2 Syndrome in a 68‐year‐old female: Natural history and further delineation of the phenotype
Author(s) -
Sengun Ece,
Yararbas Kanay,
Kasakyan Serdar,
Alanay Yasemin
Publication year - 2016
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.37882
Subject(s) - natural history , phenotype , autism spectrum disorder , snp , intellectual disability , exon , autism , genetics , biology , medicine , psychology , gene , developmental psychology , single nucleotide polymorphism , genotype
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.