NR2F1 deletion in a patient with a de novo paracentric inversion, inv(5)(q15q33.2), and syndromic deafness.
Publication/Presentation Date
5-1-2009
Abstract
In an effort to discover genes important for human development, we have ascertained patients with congenital anomalies and cytogenetically balanced chromosomal rearrangements. Herein, we report a 4-year-old girl with profound deafness, a history of feeding difficulties, dysmorphism, strabismus, developmental delay, and an apparently balanced de novo paracentric chromosome 5 inversion, inv(5)(q15q33.2). Molecular cytogenetic analysis of the inversion revealed the presence of microdeletions of approximately 400-500 kb at or near both breakpoints. The 5q15 microdeletion completely removes the nuclear receptor NR2F1 (COUP-TFI) from the inverted chromosome 5. We propose haploinsufficiency of NR2F1 to be the cause of the patient's deafness and many of the other associated anomalies based on striking similarity with the Nr2f1 null mouse. Additionally, this study further highlights the need for high resolution analysis of clinical samples with chromosomal rearrangements as associated deletions may be primarily responsible for the clinical features of these patients.
Volume
149A
Issue
5
First Page
931
Last Page
938
ISSN
1552-4833
Published In/Presented At
Brown, K. K., Alkuraya, F. S., Matos, M., Robertson, R. L., Kimonis, V. E., & Morton, C. C. (2009). NR2F1 deletion in a patient with a de novo paracentric inversion, inv(5)(q15q33.2), and syndromic deafness. American journal of medical genetics. Part A, 149A(5), 931–938. https://doi.org/10.1002/ajmg.a.32764
Disciplines
Medicine and Health Sciences
PubMedID
19353646
Department(s)
Department of Pathology and Laboratory Medicine
Document Type
Article