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.
journal_name
Clin Genetjournal_title
Clinical geneticsauthors
Aagaard Nolting L,Brasch-Andersen C,Cox H,Kanani F,Parker M,Fry AE,Loddo S,Novelli A,Dentici ML,Joss S,Jørgensen JP,Fagerberg CRdoi
10.1111/cge.13739subject
Has Abstractpub_date
2020-06-01 00:00:00pages
927-932issue
6eissn
0009-9163issn
1399-0004journal_volume
97pub_type
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