A patient with de novo 0.45Mb deletion of 2p16.1: The role of BCL11A, PAPOLG, REL, and FLJ16341 in the 2p15-p16.1 microdeletion syndrome

The 2p15-p16.1 microdeletion syndrome is a novel, rare disorder characterized by developmental delay, intellectual disability, microcephaly, growth retardation, facial abnormalities, and other medical problems. We report here on an 11-year-old female showing clinical features consistent with the syn...

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Bibliographic Details
Published in:American journal of medical genetics. Part A 2013-04, Vol.161 (4), p.865-870
Main Authors: Hancarova, Miroslava, Simandlova, Martina, Drabova, Jana, Mannik, Katrin, Kurg, Ants, Sedlacek, Zdenek
Format: Article
Language:English
Subjects:
Brain
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Summary:The 2p15-p16.1 microdeletion syndrome is a novel, rare disorder characterized by developmental delay, intellectual disability, microcephaly, growth retardation, facial abnormalities, and other medical problems. We report here on an 11-year-old female showing clinical features consistent with the syndrome and carrying a de novo 0.45Mb long deletion of the paternally derived 2p16.1 allele. The deleted region contains only three protein-coding RefSeq genes, BCL11A, PAPOLG, and REL, and one long non-coding RNA gene FLJ16341. Based on close phenotypic similarities with six reported patients showing typical clinical features of the syndrome, we propose that the critical region can be narrowed down further, and that these brain expressed genes can be considered candidates for the features seen in this microdeletion syndrome. © 2013 Wiley Periodicals, Inc. [PUBLICATION ABSTRACT]
ISSN:1552-4825
1552-4833
DOI:10.1002/ajmg.a.35783