Abstract |
Whole-genome analysis using high-density single-nucleotide-polymorphism oligonucleotide arrays allows identification of microdeletions, microduplications, and uniparental disomies. We studied 67 children with unexplained mental retardation with normal karyotypes, as assessed by G-banded chromosome analyses. Their DNAs were analyzed with Affymetrix 100K arrays. We detected 11 copy-number variations that most likely are causative of mental retardation, because they either arose de novo (9 cases) and/or overlapped with known microdeletions (2 cases). The eight deletions and three duplications varied in size from 200 kb to 7.5 Mb. Of the 11 copy-number variations, 5 were flanked by low-copy repeats. Two of those, on chromosomes 15q25.2 and Xp22.31, have not been described before and have a high probability of being causative of new deletion and duplication syndromes, respectively. In one patient, we found a deletion affecting only a single gene, MBD5, which codes for the methyl-CpG-binding domain protein 5. In addition to the 67 children, we investigated 4 mentally retarded children with apparent balanced translocations and detected four deletions at breakpoint regions ranging in size from 1.1 to 14 Mb.
|
Authors | Janine Wagenstaller, Stephanie Spranger, Bettina Lorenz-Depiereux, Bernd Kazmierczak, Michaela Nathrath, Dagmar Wahl, Babett Heye, Dieter Glaser, Volkmar Liebscher, Thomas Meitinger, Tim M Strom |
Journal | American journal of human genetics
(Am J Hum Genet)
Vol. 81
Issue 4
Pg. 768-79
(Oct 2007)
ISSN: 0002-9297 [Print] United States |
PMID | 17847001
(Publication Type: Journal Article)
|
Chemical References |
|
Topics |
- Base Sequence
- Child
- Child, Preschool
- Craniofacial Abnormalities
(genetics, pathology)
- DNA Primers
(genetics)
- Female
- Gene Deletion
- Gene Dosage
- Gene Duplication
- Genetic Variation
- Humans
- Infant
- Intellectual Disability
(genetics, pathology)
- Male
- Molecular Sequence Data
- Oligonucleotide Array Sequence Analysis
- Phenotype
- Polymorphism, Single Nucleotide
- Syndrome
- Translocation, Genetic
|