Document Detail


NR2F1 deletion in a patient with a de novo paracentric inversion, inv(5)(q15q33.2), and syndromic deafness.
MedLine Citation:
PMID:  19353646     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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.
Authors:
Kerry K Brown; Fowzan S Alkuraya; Michael Matos; Richard L Robertson; Virginia E Kimonis; Cynthia C Morton
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, N.I.H., Extramural    
Journal Detail:
Title:  American journal of medical genetics. Part A     Volume:  149A     ISSN:  1552-4833     ISO Abbreviation:  Am. J. Med. Genet. A     Publication Date:  2009 May 
Date Detail:
Created Date:  2009-05-04     Completed Date:  2009-06-18     Revised Date:  2014-09-08    
Medline Journal Info:
Nlm Unique ID:  101235741     Medline TA:  Am J Med Genet A     Country:  United States    
Other Details:
Languages:  eng     Pagination:  931-8     Citation Subset:  IM    
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MeSH Terms
Descriptor/Qualifier:
COUP Transcription Factor I / genetics*
Child, Preschool
Chromosome Inversion / genetics*
Chromosome Mapping
Chromosomes, Human, Pair 5 / genetics*
Female
Gene Deletion*
Hearing Loss, Bilateral / genetics*
Hearing Loss, Sensorineural / genetics*
Humans
In Situ Hybridization, Fluorescence
Grant Support
ID/Acronym/Agency:
F31 DC007540/DC/NIDCD NIH HHS; P01 GM061354/GM/NIGMS NIH HHS; P01 GM061354/GM/NIGMS NIH HHS; P01 GM061354-06A2/GM/NIGMS NIH HHS; R01 DC003402/DC/NIDCD NIH HHS
Chemical
Reg. No./Substance:
0/COUP Transcription Factor I; 0/NR2F1 protein, human
Comments/Corrections

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