NR2F1 deletion in a patient with a de novo paracentric inversion, inv(5)(q15q33.2), and syndromic deafness
| Autor: | Kerry K. Brown, Michael Matos, Richard L. Robertson, Fowzan S. Alkuraya, Virginia Kimonis, Cynthia C. Morton |
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| Rok vydání: | 2009 |
| Předmět: |
Hearing loss
Hearing Loss Sensorineural Biology Article Hearing Loss Bilateral Gene mapping Genetics medicine Humans Gene Genetics (clinical) In Situ Hybridization Fluorescence Chromosomal inversion COUP Transcription Factor I medicine.diagnostic_test Breakpoint Chromosome Chromosome Mapping Child Preschool Chromosome Inversion Chromosomes Human Pair 5 Female medicine.symptom Haploinsufficiency Gene Deletion Fluorescence in situ hybridization |
| Zdroj: | American journal of medical genetics. Part A. (5) |
| ISSN: | 1552-4833 |
| Popis: | 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 four 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. |
| Databáze: | OpenAIRE |
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