Clinical and molecular characteristics of 27 children with Prader-Willi syndrome in South China
10.3760/cma.j.issn.2095-428X.2016.08.004
- VernacularTitle:中国南方Prader-Willi综合征患儿27例临床表现及分子特征分析
- Author:
Xinjiang HUANG
;
Xiaojian MAO
;
Li LIU
;
Yonglan HUANG
;
Xiuzhen LI
;
Zhihong ZHOU
;
Jing CHENG
- Publication Type:Journal Article
- Keywords:
South China;
Prader-Willi syndrome;
Molecular characteristics;
Child
- From:
Chinese Journal of Applied Clinical Pediatrics
2016;31(8):573-578
- CountryChina
- Language:Chinese
-
Abstract:
Objective To understand the clinical and molecular characteristics of children with Prader-Willi syndrome (PWS) in South China.Methods Clinical and molecular data of children diagnosed as PWS by Methylation-specific PCR(MS-PCR) and/or Array Comparative Genomic Hybridization(Array-CGH)in Guangzhou Women and Children's Medical Center from November 2012 to November 2014 were analyzed.Results A total of 27 children diagnosed as PWS were included in this study,including 21 cases diagnosed by Array Comparative Genomic Hybridization (Array-CGH) and 13 cases diagnosed by methylation-specific PC R (MS-PCR).Within the 27 cases,13 cases were male(48.1%) and 14 cases were female(51.9%).The age on diagnosis was from 16 days to 16 years old.MS-PCR was performed in 13 cases,7 cases of them also performed Array-CGH,both of them showed a 174 bp fragment from the methylated allele and a 100 bp fragment from the unmethylated allele.Array-CGH analysis was performed in 21 cases,paternal deletion in 18 cases and mean interstitial deletions measure (5.48 ± 0.51) Mb in size,paternal duplication in 2 cases,loss of heterozygosity measure approximately 79.58 Mb in 1 case.Eighteen simple chromosome deletion cases were divided into 6 Del Ⅰ and 12 Del Ⅱ according to the location of Array-CGH and query the database to DECIPHER(Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources).The major phenotype included central hypotonia and feeding difficulty in all cases (100.0%),hypogonadism in 25 cases (92.6%),weak crying in 22 cases(81.5%),and hypopigmentation in 22 cases(81.5%).Fourteen cases beyond 1 year old had varied degrees of development disability and behavioral and psychiatric disturbance:speech articulation defects in 13 cases(92.9%),hyperphagia and weight gain too fast in 13 cases(92.9%) when they were between 1 to 6 years old[(2.80 ± 1.32) years old],and obesity in 12 cases (85.7%).Conclusions For PWS children in South China,there is no statistically significant difference in the clinical manifestation between Del Ⅰ and Del Ⅱ.PWS children in South China have typical clinical characteristics,which can be used as a further screening indication to implement molecular diagnostics.