Clinical characteristics and chromosome Ilpl5 imprinting analysis of Silver-Russell syndrome - a Chinese experience

摘要

Background: Silver-Russell syndrome (SRS) is an imprinting defect disease. This is the first study of Chinese children with SRS caused by chromosome Ilpl5 imprinting defects.Methods; Twenty-five SRS cases, diagnosed in Beijing Children's Hospital from 2006 to 2012, were studied retrospectively to detect chromosome Ilpl5 imprinting defects. Results: Over 80% of the children had (i) small for ges-tational age and postnatal growth retardation (mean height standard deviation score [HT SDS] was -3.56), (ii) mean body mass index (BMI) SDS was -2.10, and (iii) skeletal malformation. Chromosome Ilpl5 imprinting defects were examined in 16 of the 25 patients. Six had hypometh-ylation in chromosome Ilpl5 imprinting control region 1 (ICR1) of the paternal allele; one had hypomethylation in chromosome Ilpl5 ICR1 and hypermethylation in imprinting control region 2 (ICR2). Another patient had a duplicated maternal chromosome Ilpl5 fragment. Six patients had been treated with for 3-24 months. Growth rates ranged from 4 to 10.8 cm/year.