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

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*

*Kontaktforfatter for dette arbejde

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

5 Downloads (Pure)

Abstrakt

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.

OriginalsprogEngelsk
TidsskriftClinical Genetics
Vol/bind97
Udgave nummer6
Sider (fra-til)927-932
ISSN0009-9163
DOI
StatusUdgivet - jun. 2020

Fingeraftryk Dyk ned i forskningsemnerne om 'A new 1p36.13-1p36.12 microdeletion syndrome characterized by learning disability, behavioral abnormalities, and ptosis'. Sammen danner de et unikt fingeraftryk.

Citationsformater