De novo interstitial duplication of 15q11.2-q13.1 with complex maternal uniparental trisomy for the 15q11-q13 region in a patient with Prader-Willi syndrome.
Prader-Willi syndrome is caused by the lack of paternal contribution for the imprinted 15q11-q13 region that originates through a number of mechanisms such as paternal deletion of 15q11-q13, maternal uniparental disomy, or by an imprinting defect due to epimutations in the paternal imprinting center. In the present report, we describe a female patient with complex maternal uniparental trisomy for the 15q11-q13 Prader-Willi syndrome critical region due to a de novo interstitial duplication of 15q11-q13 region that is present in one of the maternal homologs. As a result, the patient has three maternally derived copies of the Prader-Willi syndrome critical region and absence of paternal 15 contribution and thus, presents with a Prader-Willi syndrome phenotype with risk for developing additional phenotypes (e.g., autism and psychiatric phenotypes) characteristic of maternally derived duplications of this region. We suggest that this is a rather unique mechanism leading to Prader-Willi syndrome that has not been previously reported.
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
Lindsay C
LC
Burrage
Richard E
RE
Person
Angela
A
Flores
Maria Theresa M
MT
Villanos
Weimin
W
Bi
Joanna
J
Wiszniewska
Carlos A
CA
Bacino
D000328:Adult; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics*; D056915:DNA Copy Number Variations / Q000235:genetics*; D005260:Female; D006801:Humans; D007223:Infant; D010641:Phenotype; D011218:Prader-Willi Syndrome / Q000235:genetics* / Q000503:physiopathology; D014314:Trisomy / Q000235:genetics*; D024182:Uniparental Disomy / Q000235:genetics*