A new 1p36.13‐1p36.12 microdeletion syndrome characterized by learning disability, behavioral abnormalities, and ptosis

Aagaard Nolting, Line, Brasch-Andersen, Charlotte, Cox, Helen, Kanani, Farah, Parker, Michael, Fry, Andrew E., Loddo, Sara, Novelli, Antonio, Dentici, Maria Lisa, Joss, Shelagh, Jørgensen, Joan P. and Fagerberg, Christina R. 2020. A new 1p36.13‐1p36.12 microdeletion syndrome characterized by learning disability, behavioral abnormalities, and ptosis. Clinical Genetics 97 (6) , pp. 927-932. 10.1111/cge.13739 Item availability restricted.

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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.

Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	Medicine
Publisher:	Wiley
ISSN:	0009-9163
Date of First Compliant Deposit:	10 August 2020
Date of Acceptance:	5 March 2020
Last Modified:	24 Nov 2020 18:15
URI:	http://orca.cf.ac.uk/id/eprint/134107

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