中国南方Prader-Willi综合征患儿27例临床表现及分子特征分析  

Clinical and molecular characteristics of 27 children with Prader - Willi syndrome in South China

作　　者：黄新疆 毛晓健[1] 刘丽[1] 黄永兰[1] 李秀珍[1] 周志红[1] 程静[1] 

机构地区：[1]广州医科大学附属广州市妇女儿童医疗中心遗传与内分泌科,510623

出　　处：《中华实用儿科临床杂志》2016年第8期573-578,共6页Chinese Journal of Applied Clinical Pediatrics

基　　金：广州医科大学附属广州市妇女儿童医疗中心博士启动基金（201008）;金赛儿科中青年内分泌医师科研基金（5201-2130108）

摘　　要：目的 了解中国南方Prader-Willi综合征（PWS）患儿临床表现及分子特征，为临床筛查和进一步行分子诊断提供依据。 方法 分析2012年11月至2014年11月于广州市妇女儿童医疗中心经微阵列比较基因组杂交（Array-CGH）和/或甲基化特异性PCR（MS-PCR）方法确诊为PWS患儿的临床表现和分子分型资料。 结果 共诊断PWS患儿27例，其中Array-CGH确诊21例，MS-PCR确诊13例，确诊年龄16 d～16岁；男13例（48.1%），女14例（51.9%）。对包括7例经Array-CGH检查在内的13例患儿行MS-PCR均出现170 bp母源片段而缺失100 bp父源片段；21例经Array-CGH确诊患儿中，18例15q11.2-q13.1区域缺失，平均片段缺失长度为（5.48±0.51） Mb，单纯缺失型18例患儿根据DECIPHER数据库（基于Ensembl资源的人类基因组拷贝数异常数据库）分为缺失Ⅰ和缺失Ⅱ，其中缺失Ⅰ 6例，缺失Ⅱ 12例，2种缺失型患儿临床表现差异均无统计学意义（P均〉0.05），2例15q11.2-q13.1区重复，1例复合杂合性79.58 Mb缺失。27例患儿均有新生儿肌张力低下和婴儿期喂养困难（100.0%），22例不哭或哭声微弱（81.5%），25例性腺发育不良（92.6%），22例皮肤色素减退（81.5%）。14例1岁以上患儿中，均出现不同程度的精神运动发育迟缓和认知行为异常（100.0%），13例存在不同程度语言发育落后和/或清晰度异常（92.9%），13例（92.9%）在1～6岁[（2.80±1.32）岁]开始食欲旺盛、体质量增长过快，12例（85.7%）存在肥胖症和睡眠障碍。 结论 中国南方单纯缺失型PWS患儿中缺失Ⅰ和缺失Ⅱ临床表现差异无统计学意义。中国南方PWS患儿普遍存在典型的临床特征，可作为进一步行PWS分子诊断的初步筛选指标。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 diag- nosed 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 PCR （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 du- plication in 2 cases, loss of heterozygosity measure approximately 79.58 Mb in 1 case. Eighteen simple chromosome de- letion cases were divided into 6 Del I and 12 DelⅡ 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 de- fects in 13 eases（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 �

关 键 词：中国南方 PRADER-WILLI综合征 分子特征 JL童 

分 类 号：R596.1[医药卫生—内科学]