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| Status |
Public on Feb 17, 2008 |
| Title |
Recurrent 15q13 microdeletions |
| Organism |
Homo sapiens |
| Experiment type |
Genome variation profiling by genome tiling array
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| Summary |
We report a recurrent microdeletion syndrome causing mental retardation, epilepsy and variable facial and digital dysmorphisms. We describe nine patients, including six probands; two with de novo deletions, two who inherited the deletion from an affected parent, and two with unknown inheritance. The proximal breakpoint of the largest deletion is contiguous with breakpoint 3 (BP3) of the Prader-Willi/Angelman region extending 3.95 Mb distally to BP5. A smaller 1.5 Mb deletion has proximal breakpoint within the larger deletion (BP4) and shares the same distal BP5. This recurrent 1.5 Mb deletion contains six genes, including a candidate gene for epilepsy (CHRNA7) that is likely responsible for the observed seizure phenotype. The BP4-BP5 region undergoes frequent inversion, suggesting a possible link between this inversion polymorphism and recurrent deletion. The frequency of these microdeletions in mental retardation cases is ~0.3% (6/2082 tested), a prevalence comparable to that of the Williams, Angelman, and Prader-Willi syndromes.
Keywords: microdeletion, genomic disorder, mental retardation, epilepsy
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| Overall design |
Patients were intially screened by BAC array CGH (n=290) or qPCR (n=1040). Patients with potential 15q13 deletions were then analyzed on a custom oligonucleotide array targeted to the 15q13 region, results of which are shown here.
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| Contributor(s) |
Mefford HC, Sharp AJ, Eichler EE |
| Citation(s) |
18278044 |
| Submission date |
Jan 16, 2008 |
| Last update date |
Mar 19, 2012 |
| Contact name |
Heather Mefford |
| E-mail(s) |
hmefford@u.washington.edu
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| Phone |
206-685-7336
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| Fax |
206-221-5795
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| Organization name |
University of Washington
|
| Department |
Genome Sciences
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| Lab |
Eichler Lab
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| Street address |
1705 NE Pacific St
|
| City |
Seattle |
| State/province |
WA |
| ZIP/Postal code |
98195 |
| Country |
USA |
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| Platforms (4)
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| GPL6342 |
University of Washington Human custom 2-plex 166K array for 15q13 region, A1 version 1 |
| GPL6343 |
University of Washington Human custom 2-plex 166K array for 15q13 region, A2 subarray version 1 |
| GPL6345 |
University of Washington Human original custom 2-plex 166K array, version 1 |
| GPL6380 |
University of Washington Human Itsara PWS 388K custom design array, version 1 |
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| Samples (12)
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| Relations |
| BioProject |
PRJNA108297 |
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