Clinical features of maternal uniparental disomy 14 in patients with an epimutation and a deletion of the imprinted DLK1/GTL2 gene cluster
✍ Scribed by Karin Buiting; Deniz Kanber; José I. Martín-Subero; Wolfgang Lieb; Paulien Terhal; Beate Albrecht; Sabine Purmann; Stephanie Gross; Christina Lich; Reiner Siebert; Bernhard Horsthemke; Gabriele Gillessen-Kaesbach
- Publisher
- John Wiley and Sons
- Year
- 2008
- Tongue
- English
- Weight
- 290 KB
- Volume
- 29
- Category
- Article
- ISSN
- 1059-7794
No coin nor oath required. For personal study only.
✦ Synopsis
Communicated by Nancy B. Spinner
Maternal uniparental disomy 14 [upd( 14)mat] is associated with a recognizable phenotype that includes preand postnatal growth retardation, neonatal hypotonia, feeding problems and precocious puberty. Chromosome 14 contains an imprinted gene cluster, which is regulated by a differentially methylated region (IG-DMR) between DLK1 and GTL2. Here we report on four patients with clinical features of upd( 14)mat who show a maternal-only methylation pattern, but biparental inheritance for chromosome 14. In three of the patients loss of paternal methylation appears to be a primary epimutation, whereas the other patient has a paternally derived deletion of À1 Mb that includes the imprinted DLK1-GTL2 gene cluster. These findings demonstrate that the upd( 14)mat phenotype is caused by altered expression of genes within this cluster. Hum Mutat 29(9),