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Lookup NU author(s): Professor Jeremy Parr
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© 2017 Wiley Periodicals, Inc. We present an 18-year-old boy with cerebral palsy, intellectual disability, speech delay, and seizures. He carries a likely pathogenic 1.3Mb de novo heterozygous deletion in the 4q21.22 microdeletion syndrome region. He also carries a 436kb maternally-inherited duplication impacting the first three exons of CHRNA7. The majority of previously published cases with 4q21.22 syndrome shared common features including growth restriction, muscular hypotonia, and absent or severely delayed speech. Using copy number variation (CNV) data available for other subjects, we defined a minimal critical region of 170.8kb within the syndromic region, encompassing HNRNPD. We also identified a larger 2Mb critical region encompassing ten protein-coding genes, of which six (PRKG2, RASGEF1B, HNRNPDL, HNRNPD, LIN54, COPS4) have a significantly low number of truncating loss-of-function mutations. Long-range chromatin interaction data suggest that this deletion may alter chromatin interactions at the 4q21.22 microdeletion region. We suggest that the deletion or misregulation of these genes is likely to contribute to the neurodevelopmental and neuromuscular abnormalities in 4q21.22 syndrome.
Author(s): Zarrei M, Merico D, Kellam B, Engchuan W, Scriver T, Jokhan R, Wilson MD, Parr J, Lemire EG, Stavropoulos DJ, Scherer SW
Publication type: Article
Publication status: Published
Journal: American Journal of Medical Genetics, Part A
Year: 2017
Volume: 173
Issue: 5
Pages: 1287-1293
Print publication date: 01/05/2017
Online publication date: 03/04/2017
Acceptance date: 18/01/2017
ISSN (print): 1552-4825
ISSN (electronic): 1552-4833
Publisher: John Wiley & Sons, Inc.
URL: https://doi.org/10.1002/ajmg.a.38176
DOI: 10.1002/ajmg.a.38176
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