A new 1p36.13-1p36.12 microdeletion syndrome characterized by learning disability,behavioral abnormalities,and ptosis |
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| Authors: | Line Aagaard Nolting Charlotte Brasch-Andersen Helen Cox Farah Kanani Michael Parker Andrew E Fry Sara Loddo Antonio Novelli Maria Lisa Dentici Shelagh Joss Joan P Jørgensen Christina R Fagerberg |
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| Institution: | 1. Department of Clinical Genetics, Odense University Hospital, Odense, Denmark;2. Clinical Genetics Unit, West Midlands Regional Clinical Genetics Unit Birmingham U.K., Birmingham, UK;3. Sheffield Clinical Genetics Service, Northern General Hospital, Sheffield, UK;4. Institute of Medical Genetics, University Hospital of Wales, Cardiff, UK;5. Laboratory of Medical Genetics, Bambino Gesù Childrens' Hospital, Rome, Italy;6. Medical Genetics Unit, Bambino Gesù Children's Hospital, Rome, Italy;7. Clinical Genetics, West of Scotland Genetic Services, the Queen Elisabeth University Hospital, Glasgow, UK;8. Hans Christian Andersen Children's Hospital, Odense University Hospital, Odense, Denmark |
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| Abstract: | Two 1p36 contiguous gene deletion syndromes are known so far: the terminal 1p36 deletion syndrome and a 1p36 deletion syndrome with a critical region located more proximal at 1p36.23-1p36.22. We present even more proximally located overlapping deletions from seven individuals, with the smallest region of overlap comprising 1 Mb at 1p36.13-1p36.12 (chr1:19077793-20081292 (GRCh37/hg19)) defining a new contiguous gene deletion syndrome. The characteristic features of this new syndrome are learning disability or mild intellectual disability, speech delay, behavioral abnormalities, and ptosis. The genes UBR4 and CAPZB are considered the most likely candidate genes for the features of this new syndrome. |
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| Keywords: | behavioral abnormality chromosome deletion chromosomes learning disability human pair 1 ptosis |
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