Congenital glaucoma and silver-russell phenotype associated with partial trisomy 7q and monosomy 15q
AMERICAN JOURNAL OF MEDICAL GENETICS
Authors: Kato, R; Kishibayashi, J; Shimokawa, O; Harada, N; Niikawa, N; Matsumoto, N
Abstract
We report on a 28-year-old man with trisomy 7q34-qter and monosomy 15q26.3-qter caused by a paternal balanced chromosomal translocation, t(7;15)(q34;q26.3). He had bilateral congenital glaucoma (buphthalmos), as well as typical manifestations of partial trisomy 7q. To our knowledge, this is the second description of a possible relation between congenital glaucoma and 7q trisomy. He also had some Silver-Russell syndrome features, such as short stature of prenatal onset, a characteristic triangular face, clinodactyly of the fifth fingers, and body asymmetry. Fluorescence in situ hybridization analysis on his chromosomes revealed that one copy of the insulin-like growth factor I receptor gene (IGF1R) at 15q25-q26 was deleted, suggesting a possible role of IGF1R in the SRS phenotype. (C) 2001 Wiley-Liss, Inc.
Identification of Imprinted Genes and Their Differentially Methylated Regions in Porcine
RUSSIAN JOURNAL OF GENETICS
Authors: Yin, Z.; Zhang, X.; Li, J.; Jiao, Y.; Kong, Q.; Mu, Y.
Abstract
Genomic imprinting is an epigenetic mechanism that leads to parent-specific gene expression. A number of imprinted genes have been identified in humans and mice but fewer genes have been described as imprinted in pig. In the study, 59 porcine candidate imprinted genes were obtained by bioinformatics analysis. Among them, Grb10, Slc22a3 and Slc22a18 were selected for molecular cloning and expression pattern analysis. And, single-nucleotide polymorphism-based methods were performed to identify their imprinting status. We found that Grb10 and Slc22a18 were imprinted in pig and their differentially methylated regions were further determined by bisulfite sequencing PCR. With this work we advance the field of genomic imprinting by expanding the list of imprinted genes in pig and demonstrate a feasible and effective method to characterize imprinted genes in mammalians.