Email Alert | RSS

Journal of Peking University(Health Sciences) ›› 2017, Vol. 49 ›› Issue (5): 899-903. doi: 10.3969/j.issn.1671-167X.2017.05.028

• Article • Previous Articles     Next Articles

Clinical and genetic characteristics of Williams-Beuren syndrome: 2 cases report

WANG Shu-qi1, 2, YANG Zhi-xian1, LI Hui1   

  1. 1. Department of Pediatrics, Peking University First Hospital, Beijing 100034, China;
    2. Department of Pediatrics, Affiliated Hospital of Chifeng University, Chifeng 024005, Inner Mongolia, China
  • Received:2017-04-25 Online:2017-10-18 Published:2017-10-18

RICH HTML

  

PDF (PC)

Abstract: SUMMARY To explore the clinical and genetic characteristics of Williams-Beuren syndrome (WBS) and to raise awareness of the disease. The characteristics of clinical manifestations, personal history, cardiac ultrasound, brain magnetic resonance imaging (MRI), electroencephalogram (EEG) and chromosome detection results of two cases with WBS were analyzed. The two patients were both male and the age was 11 months and 1 day, and 9 months and 9 days, respectively. They both suffered from cardiovascular malformation: case one presented supravalvular aortic stenosis, and case two showed atrial septal defect and patent ductus arteriosus. Both of the cases were exhibited characteristic facial features of WBS, including full orbital, spherical nose, flat nasal bridge, long philtrum and thick lips. For the mental deve-lopment, case one displayed moderate to severe developmental retardation, and case two showed severe developmental retardation. In addition, case one presented bilateral indirect inguinal hernia and hydrocele, and case two manifested feeding difficulties, buried penis and infantile spasms. Personal history: case one’s mother had tocolytic therapy during pregnancy period, and case one was born at full-term by cesarean section due to amniotic fluid pollution. Supplementary examination: brain MRI of the two cases were no significant abnormalities, the EEG of case two showed hypsarrhythmia, and the epileptic spasms were recorded. Chromosome detection results: case one was identified as 7q11.23 deletion including the fragment deletion mutation of elastin (ELN) gene by multiplex ligation dependent probe amplification method, and case two was found with 7q11.21q11.23 deletion by high resolution G-band method. The two cases with WBS both had cardiovascular malformations, special facial features, mental retardation and connective tissue or urinary system abnormality. The supravalvular aortic stenosis of case one may be associated with the deletion of ELN gene, and the occurrence of epilepsy of case two may be related to the q11.21 deletion beyond the 7q11.23 region.

Key words: Williams-Beuren syndrome, Chromosomes deletion, Infantile spasms, Genes

CLC Number: 

  • R596.1
[1] Williams JCP, Barratt-Boyes BG, Lowe JB. Supravalvular aortic stenosis [J]. Circulation, 1961, 24(6): 1311-1318.
[2] Beuren AJ, Apitz J, Koncz J. Die diagnose und Beurteilung der verschiedenen formen der supravalvulären aortenstenose [J]. Zeitschrift Kreislaufforsch, 1962, 51: 829-837.
[3] Stromme P, Bjornstad PG, Ramstad K. Prevalence estimation of Williams syndrome [J]. J Child Neurol, 2002, 17(4): 269-271.
[4] Amenta S, Sofocleous C, Kolialexi A, et al. Clinical manifestations and molecular investigation of 50 patients with Williams syndrome in the Greek population [J]. Pediatr Res, 2005, 57(6): 789-795.
[5] Li L, Huang L, Luo Y, et al. Differing microdeletion sizes and breakpoints in chromosome 7q11.23 in Williams-Beuren syndrome detected by chromosomal microarray analysis [J]. Mol Syndromol, 2016, 6(6): 268-275.
[6] Ewart AK, Morris CA, Atkinson D, et al. Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome [J]. Nat Genet, 1993, 5(1): 11-16.
[7] Curran ME, Atkinson DL, Ewart AK, et al. The elastin gene is disrupted by a translocation associated with supravalvular aortic stenosis [J]. Cell, 1993, 73(1): 159-168.
[8] Li DY, Toland AE, Boak BB, et al. Elastin point mutations cause an obstructive vascular disease, supravalvular aortic stenosis [J]. Hum Mol Genet, 1997, 6(7): 1021-1028.
[9] Tassabehji M, Metcalfe K, Donnai D, et al. Elastin: genomic structure and point mutations in patients with supravalvular aortic stenosis [J]. Hum Mol Genet, 1997, 6(7): 1029-1036.
[10] Sugayama SM, Moises RL, Wagenfur J, et al. Williams-Beuren syndrome: cardiovascular abnormalities in 20 patients diagnosed with fluorescence in situ hybridization [J]. Arq Bras Cardiol, 2003, 81(5): 462-473.
[11] Committee on Genetics. American Academy of Pediatrics: Health care supervision for children with Williams syndromes [J]. Pe-diatrics, 2001, 107(5): 1192-1204.
[12] 吕俊健, 周伟, 陈珊. 以反复心律失常为主要表现的新生儿Williams-Beuren综合征1例[J]. 中华实用儿科临床杂志, 2015, 30(20): 1593-1594.
[13] Karmiloff-Smith A, Grant J, Ewing S, et al. Using case study comparisons to explore genotype-phenotype correlations in Williams-Beuren syndrome [J]. J Med Genet, 2003, 40(2): 136-140.
[14] 解春红, 杨建滨, 邵洁, 等. 威廉斯综合征25例的荧光原位杂交检测[J]. 中华医学遗传学杂志, 2007, 24(1): 104-106.
[15] 解春红, 赵正言. 威廉斯综合征的基因型和认知表型研究[J]. 国际儿科学杂志, 2006, 33(2): 117-119.
[16] Nicita F, Garone G, Spalice A, et al. Epilepsy is a possible feature in Williams-Beuren syndrome patients harboring typical deletions of the 7q11.23 critical region [J]. Am J Med Genet A, 2016, 170A(1): 148-155.
[17] Scherer SW, Osborne L. Williams-Beuren syndrome [M]// Lupski J, Stankiewicz P. Genomic disorders: the genomic basis of disease. Totowa NJ: Human Press, 2006: 221-236.
[18] Tassabehji M. Williams-Beuren syndrome: a challenge for genotype phenotype-correlations [J]. Hum Mol Genet, 2003, 12(2): R229-237.
[19] Fusco C, Micale L, Augello B, et al. Smaller and larger deletions of the Williams Beuren syndrome region implicate genes involved in mild facial phenotype, epilepsy and autistic traits [J]. Eur J Hum Genet, 2014, 22(1): 64-70.
[20] Dai L, Bellugi U, Chen XN, et al. Is it Williams syndrome? GTF2IRD1 implicated in visual-spatial construction and GTF2I in sociability revealed by high resolution arrays [J]. Am J Med Genet A, 2009, 149A(3): 302-314.
[21] Samanta D. Infantile spasms in Williams-Beuren syndrome with typical deletions of the 7q11.23 critical region and a review of the literature [J]. Acta Neurol Belg, 2016, 117(1): 359-362.
[22] Ramocki MB, Bartnik M, Szafranski P, et al. Recurrent distal 7q11.23 deletion including HIPI and YWHAG identified in patients with intellectual disabilities, epilepsy, and neurobehavioral problems [J]. Am J Hum Genet, 2010, 87(6): 857-865.
[23] Mizugishi K, Yamanaka K, Kuwajima K. Interstitial deletion of chromosome 7q in a patient with Williams syndrome and infantile spasms [J]. J Hum Genet, 1998, 43(3): 178-181.
[24] Marshall CR, Young EJ, Pani AM, et al. Infantile spasms is associated with deletion of the MAGI2 gene on chromosome 7q11.23-q21.22 [J]. Am J Hum Genet, 2008, 83(1): 106-111.
[1] Hai WANG, Yizhou JIANG. Molecular mechanisms and clinical applications of anti-angiogenic therapy in precision treatment of breast cancer [J]. Journal of Peking University (Health Sciences), 2026, 58(2): 251-256.
[2] Yunling GENG, Chao LIU, Ping YANG, Jiajia ZHENG, Ning SHEN, Yipeng DU. Clinical features and virulence gene distribution of Klebsiella pneumoniae multi-site infection in patients with hospital-acquired pneumonia [J]. Journal of Peking University (Health Sciences), 2026, 58(1): 201-207.
[3] Ziyang YU, Houzuo GUO, Xi JIANG, Weihua HAN, Ye LIN. Imaging study of osteogenesis in maxillary sinus segment of zygomatic implants [J]. Journal of Peking University (Health Sciences), 2025, 57(5): 967-974.
[4] Shunkai LIU, Weihua CAO, Jun LV, Canqing YU, Tao HUANG, Dianjianyi SUN, Chunxiao LIAO, Yuanjie PANG, Runhua HU, Ruqin GAO, Min YU, Jinyi ZHOU, Xianping WU, Yu LIU, Wenjing GAO, Liming LI. Association between DNA methylation clock and obesity-related indicators: A longitudinal twin study [J]. Journal of Peking University (Health Sciences), 2025, 57(3): 456-464.
[5] Zhenwei ZHANG, Xinran XU, Xuejun GAO, Yanmei DONG, Hua TIAN. Frameshift mutation in RELT gene causes amelogenesis imperfecta [J]. Journal of Peking University (Health Sciences), 2025, 57(1): 13-18.
[6] Bingle LI, Lingyan ZHU, Yongfu WANG, Li BAI. Mechanism of melatonin regulating the expression level of rhythm genes to alleviate interstitial pulmonary fibrosis [J]. Journal of Peking University (Health Sciences), 2024, 56(6): 963-971.
[7] Huan-rui LIU,Xiang PENG,Sen-lin LI,Xin GOU. Risk modeling based on HER-2 related genes for bladder cancer survival prognosis assessment [J]. Journal of Peking University (Health Sciences), 2023, 55(5): 793-801.
[8] Xiao-xuan LIU,Xiao-hui DUAN,Shuo ZHANG,A-ping SUN,Ying-shuang ZHANG,Dong-sheng FAN. Genetic distribution in Chinese patients with hereditary peripheral neuropathy [J]. Journal of Peking University (Health Sciences), 2022, 54(5): 874-883.
[9] Meng-ying WANG, Wen-yong LI, Ren ZHOU, Si-yue WANG, Dong-jing LIU, Hong-chen ZHENG, Zhi-bo ZHOU, Hong-ping ZHU, Tao WU, Yong-hua HU. Association study between haplotypes of WNT signaling pathway genes and nonsyndromic oral clefts among Chinese Han populations [J]. Journal of Peking University (Health Sciences), 2022, 54(3): 394-399.
[10] DU Wen-yu,YANG Jing-wen,JIANG Ting. Early constant observation of the effect of deferoxamine mesylate on improvement of vascularized bone regeneration in SD rat skull critical size defect model [J]. Journal of Peking University (Health Sciences), 2021, 53(6): 1171-1177.
[11] HUANG Li-dong,GONG Wei-yu,DONG Yan-mei. Effects of bioactive glass on proliferation, differentiation and angiogenesis of human umbilical vein endothelial cells [J]. Journal of Peking University (Health Sciences), 2021, 53(2): 371-377.
[12] WANG Jing-qi,WANG Xiao. In vivo study of strontium-doped calcium phosphate cement for biological properties [J]. Journal of Peking University (Health Sciences), 2021, 53(2): 378-383.
[13] WU Jun-yi,YU Miao,SUN Shi-chen,FAN Zhuang-zhuang,ZHENG Jing-lei,ZHANG Liu-tao,FENG Hai-lan,LIU Yang,HAN Dong. Detection of EDA gene mutation and phenotypic analysis in patients with hypohidrotic ectodermal dysplasia [J]. Journal of Peking University (Health Sciences), 2021, 53(1): 24-33.
[14] ZHANG Sheng-nan,AN Na,OUYANG Xiang-ying,LIU Ying-jun,WANG Xue-kui. Role of growth arrest-specific protein 6 in migration and osteogenic differentiation of human periodontal ligament cells [J]. Journal of Peking University (Health Sciences), 2021, 53(1): 9-15.
[15] Mei WANG, Bo-wen LI, Si-wen WANG, Yu-hua LIU. Preparation and osteogenic effect study of small intestinal submucosa sponge [J]. Journal of Peking University (Health Sciences), 2020, 52(5): 952-958.
Viewed
Full text


Abstract

Cited
  Shared   
  Discussed   
No Suggested Reading articles found!
Copyright © Journal of Peking University (Health Sciences), All Rights Reserved.
Powered by Beijing Magtech Co. Ltd