Narrowing down the region responsible for 1q23.3q24.1 microdeletion by identifying the smallest deletion
HUMAN GENOME VARIATION
Authors: Hoshina, Takao; Seto, Toshiyuki; Shimono, Taro; Sakamoto, Hiroaki; Okuyama, Torayuki; Hamazaki, Takashi; Yamamoto, Toshiyuki
Abstract
Interstitial deletions of 1q23.3q24.1 are rare. Here, chromosomal microarray testing identified a de novo microdeletion of arr[GRCh37]1q23.3q24.1(164816055_165696996) x 1 in a patient with moderate developmental delay, hearing loss, cryptorchidism, and other distinctive features. The clinical features were common to those previously reported in patients with overlapping deletions. The patient's deletion size was 881 kb the smallest yet reported. This therefore narrowed down the deletion responsible for the common clinical features. The deleted region included seven genes; deletion of LMX1A, RXRG, and ALDH9A1 may have caused our patient's neurodevelopmental delay.
Analysis of epistasis for diabetic nephropathy among type 2 diabetic patients
HUMAN MOLECULAR GENETICS
Authors: Hsieh, Chang-Hsun; Liang, Kung-Hao; Hung, Yi-Jen; Huang, Li-Chin; Pei, Dee; Liao, Ya-Tang; Kuo, Shi-Wen; Bey, Monica Shian-Jy; Chen, Jui-Lin; Chen, Ellson Y.
Abstract
Diabetic nephropathy (DN) is one of the most serious complications of diabetes, accounting for the majority of patients with end-stage renal disease. The molecular pathogenesis of DN involves multiple pathways in a complex, partially resolved manner. The paper presents an exploratory epistatic study for DN. Association analysis were performed on 231 SNP loci in a cohort of 264 type 2 diabetes patients, followed by the epistasis analysis using the multifactor dimensionality reduction and the genetic algorithm with Boolean algebra. A two-locus epistatic effect of EGFR and RXRG was identified, with a cross-validation consistency of 91.7%.