Trisomy 13 (Patau's syndrome) is a rare finding in newborns. The life span of babies affected by this chromosome abnormality is severely shortened, and multiple, partly severe malformations occur. In this study, we report on an unborn with trisomy 13 (artificially aborted on the 24th week) which showed, among other typical deformities, bilateral nephrogenic rests (nephroblastomatosis). Using molecular analysis, a loss of Wilms' tumor gene 1 (WT1) transcript and a biallelic expression of insulin growth factor 2 (IGF2) could be revealed. To our knowledge, this is the first reported case of trisomy 13 which showed this type of anomaly and gene expression findings.
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http://dx.doi.org/10.1007/s00428-005-0067-3 | DOI Listing |
Cancers (Basel)
February 2023
Princess Máxima Center for Pediatric Oncology, 3584 CS Utrecht, The Netherlands.
Objective: To review somatic genetic changes in nephrogenic rests (NR), which are considered to be precursor lesions of Wilms tumors (WT).
Methods: This systematic review is written according to the PRISMA statement. PubMed and EMBASE were systematically searched for articles in the English language studying somatic genetic changes in NR between 1990 and 2022.
Pediatr Dev Pathol
June 2022
Department of Genetics, 83011Complejo Hospitalario de Navarra, Pamplona, Spain.
Diaphanospondylodysostosis is an extremely rare, recessively inherited, perinatal lethal skeletal disorder associated with BMPER gene mutations. Clinically it is characterized by defects in costovertebral ossification, absent ribs, hypertelorism, short nose with depressed nasal bridge, low-set ears, and short neck. At the extraosseous level, the most frequent pathologic finding is nephroblastomatosis with multicystic kidneys.
View Article and Find Full Text PDFNat Commun
May 2020
Stem Cell Program, Division of Hematology/Oncology, Boston Children's Hospital, Boston, MA, 02115, USA.
DIS3L2-mediated decay (DMD) is a surveillance pathway for certain non-coding RNAs (ncRNAs) including ribosomal RNAs (rRNAs), transfer RNAs (tRNAs), small nuclear RNAs (snRNAs), and RMRP. While mutations in DIS3L2 are associated with Perlman syndrome, the biological significance of impaired DMD is obscure and pathological RNAs have not been identified. Here, by ribosome profiling (Ribo-seq) we find specific dysregulation of endoplasmic reticulum (ER)-targeted mRNA translation in DIS3L2-deficient cells.
View Article and Find Full Text PDFNat Struct Mol Biol
June 2019
Stem Cell Program, Division of Hematology/Oncology, Boston Children's Hospital, Boston, MA, USA.
Ribosomal RNA (rRNA) biogenesis is a multistep process requiring several nuclear and cytoplasmic exonucleases. The exact processing steps for mammalian 5.8S rRNA remain obscure.
View Article and Find Full Text PDFGenes Dev
August 2018
Medical Research Council, Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Western General Hospital, Edinburgh EH4 2XU, United Kingdom.
Overgrowth syndromes such as Perlman syndrome and associated pediatric cancers, including Wilms tumor, arise through genetic and, in certain instances, also epigenetic changes. In the case of the Beckwith-Wiedemann overgrowth syndrome and in Wilms tumor, increased levels of have been shown to be causally related to the disease manifestation. In the previous issue of , Hunter and colleagues (pp.
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