[an error occurred while processing this directive]

Advanced Ultrasound in Diagnosis and Therapy ›› 2024, Vol. 8 ›› Issue (3): 79-85.doi: 10.37015/AUDT.2024.240036

• • 上一篇    下一篇

  

  • 收稿日期:2024-06-27 修回日期:2024-08-18 接受日期:2024-09-04 出版日期:2024-09-30 发布日期:2024-10-16

Update on the Genetics and Prenatal Ultrasound Features of Williams-Beuren Syndrome

Shanqing Li, MMa, Rong Hu, MMa, Xijing Liu, MDb, Fan Yang, MDa,c,*()   

  1. aUltrasound Department, West China Second Hospital, Sichuan University/Key Laboratory of Birth Defects and Related Maternal and Child Diseases of the Ministry of Education, Chengdu, Sichuan, China
    bDepartment of Medical Genetics/Prenatal Diagnostic Center, West China Second Hospital, Sichuan University/Key Laboratory of Birth Defects and Related Maternal and Child Diseases of the Ministry of Education, Chengdu, Sichuan, China
    cChenghua District Maternal and Child Health Hospital of Chengdu, Chengdu, Sichuan, China
  • Received:2024-06-27 Revised:2024-08-18 Accepted:2024-09-04 Online:2024-09-30 Published:2024-10-16
  • Contact: *Ultrasound Department, West China Second Hospital, Sichuan University, Chengdu, Sichuan, China/Chenghua District Maternal and Child Health Hospital of Chengdu, No. 6-8 Xinhong Road, Chenghua Avenue, Chenghua District, Chengdu 610051, Sichuan, China. e-mail: jessica_cd@163.com

RichHTML

13

PDF (PC)

133

Abstract:

A heterozygous microdeletion of chromosome 7q11.23 causes the rare neuropsychiatric developmental disorder Williams-Beuren Syndrome. The syndrome is more difficult to diagnose before birth than after, even though the syndrome often manifests prenatally as intrauterine growth restriction and cardiovascular defects on prenatal ultrasonography. The potentially poor prognosis of affected individuals highlights the need to improve prenatal diagnosis of the syndrome. This review summarizes recent advances in our understanding of the genetics of Williams-Beuren Syndrome and its manifestations on prenatal ultrasonography, which may facilitate its early detection and inform prenatal genetic counseling.

Key words: Williams syndrome, Genetics, Ultrasonography, Prenatal diagnosis

"

ID Reference Phenotypic features
1 Dadelszen P, et al 2000 SVAS, PAS, absence of diastolic of UA, fetal hydrops
2 Kontos, et al 2008 VSD
3 Krzeminska, et al 2009 IUGR, SVAS, echogenic bowel
4 Popowski, et al 2011 IUGR, SVAS, nasal bone dysplasia
5 Marcato, et al 2014 IUGR, echogenic bowel
IUGR, nasal bone dysplasia
IUGR, omphalocele
6 Chen, et al 2016 IUGR, polycystic dysplastic kidney
7 Kobalka, Mrak, Gunning 2017 AC, cardiomegaly
8 Srinivasan, Howley, Cuneo, Chatfield 2018 IUGR, SVAS, PAS
9 Li, et al 2019 Polyhydramnios
10 Liu, et al 2019 IUGR, tricuspid regurgitation
IUGR, PAS, mitral regurgitation, tricuspid regurgitation, enlarged left ventricule
11 Yuan, Deng, Yang, Sun 2020 IUGR, VSD
IUGR, IEF, SUA
IUGR
IUGR, VSD
IUGR, AC, PLSVC
IUGR
IUGR, RAA
12 Dang, et al 2020 NO
Thickened NF
Coronary veins widened, small amount of pericardial effusion, IEF
Fetal right ventricle slant, tricuspid regurgitation
Polycystic dysplastic kidney
13 Zhou, et al 2021 PLSVC, elevated S/D
IUGR
IUGR
VSD, small gallbladder
NO
Bilateral pleural effusion, fetal hydrops
SUA
Fetal cerebral ventriculomegaly, widened fetal renal pelvis
IUGR
DA
14 Ji, Xu 2021 PLSVC, AC, left heart deviation, echogenic bowel
15 Huang, et al 2022 Polycystic dysplastic kidney
AC
DA
TOF, SVAS, RAA
VSD, AC
IUGR, PAS
IUGR
VSD
16 Zhai, et al 2022 IUGR, IEF
IUGR
17 Chen, et al 2022 IUGR, Polycystic dysplastic kidney
18 Wang, et al 2023 IUGR, PLSVC, elevated blood flow rate in the aortic valve
IUGR, elevated S/D, absence of diastolic flow in the MCA
IUGR, elevated S/D, thickened NT
IUGR
IUGR, elevated S/D
Elevated S/D, polyhydramnios, bilateral subependymal cysts, fetal hydrops
IUGR, RAA
RAA, thickened NT, fetal hydrops
IUGR, enlarged right atrium, absence of diastolic SUA, absence of venous duct
Left pleural effusion
IUGR, RAA, elevated S/D, DA
Thickened NF, low-lying CM, limb abnormalities
NO
IUGR, VSD
19 Luo, He 2023 SVAS, PAS
[1] Williams J, Barratt-Boyes BG, Lowe JB. Supravalvular aortic stenosis. Circulation 1961; 24:1311-1318.
pmid: 14007182
[2] Beuren AJ, Apitz J, koncz J. Die diagnose und Beurteilung der verschiedenen formen der supravalvularen aortensteose. Zeit- schrift Kreislaufforsch 1962;51:829-837.
[3] Pober BR. Williams-Beuren syndrome. N Engl J Med 2010;362:239-252.
[4] Broder K, Reinhardt E, Ahern J, Lifton R, Tamborlane W, Pober B. Elevated ambulatory blood pressure in 20 subjects with Williams syndrome. Am J Med Genet 1999;83:356-360.
[5] Merla G, Brunetti-Pierri N, Micale L, Fusco C. Copy number variants at Williams-Beuren syndrome 7q11.23 region. Hum Genet 2010;128:3-26
[6] Collins RT 2nd. Cardiovascular disease in Williams syndrome. Curr Opin Pediatr 2018;30:609-615.
[7] Yuan SM. Congenital heart defects in Williams syndrome. Turk J Pediatr 2017;59:225-232.
[8] Merla G, Brunetti-Pierri N, Piccolo P, Micale L, Loviglio MN. Supravalvular aortic stenosis: elastin arteriopathy. Circ Cardiovasc Genet 2012;5:692-696.
[9] van Hagen JM, van der Geest JN, van der Giessen RS, Lagers-van Haselen GC, Eussen HJ, Gille JJ, et al. Contribution of CYLN2 andGTF2IRD1 to neurological and cognitive symptoms in Williams Syndrome. Neurobiol Dis 2007;26:112-124.
[10] Howald C, Merla G, Digilio MC, Amenta S, Lyle R, Deutsch S, Choudhury U, et al. Two high throughput technologies to detect segmental aneuploidies identify new Williams-Beuren syndrome patients with atypical deletions. J Med Genet 2006;43:266-273.
[11] Ramocki MB, Bartnik M, Szafranski P, Kołodziejska KE, Xia Z, Bravo J, et al. Recurrent distal 7q11.23 deletion including HIP1 and YWHAG identified in patients with intellectual disabilities, epilepsy, and neurobehavioral problems. Am J Hum Genet 2010;87:857-865.
[12] Marshall CR, Young EJ, Pani AM, Freckmann ML, Lacassie Y, Howald C, et al. Infantile spasms is associated with deletion of the MAGI2 gene on chromosome 7q11.23-q21.11. Am J Hum Genet 2008;83:106-111.
[13] Guo H, Lu F. Prenatal diagnosis of genetic diseases. Guangzhou Guangdong Science and Technology Press. 2020.
[14] Segura-Puimedon M, Sahún I, Velot E, Dubus P, Borralleras C, Rodrigues AJ, et al. Heterozygous deletion of the Williams-Beuren syndrome critical interval in mice recapitulates most features of the human disorder. Hum Mol Genet 2014;23:6481-6494.
[15] Borralleras C, Mato S, Amédée T, Matute C, Mulle C, Pérez-Jurado LA, et al. Synaptic plasticity and spatial working memory are impaired in the CD mouse model of Williams-Beuren syndrome. Mol Brain 2016;9:76.
[16] Jiménez-Altayó F, Ortiz-Romero P, Puertas-Umbert L, Dantas AP, Pérez B, Vila E, et al. Stenosis coexists with compromised α1-adrenergic contractions in the ascending aorta of a mouse model of Williams-Beuren syndrome. Sci Rep 2020;10:889.
[17] Schubert C. The genomic basis of the Williams-Beuren syndrome. Cell Mol Life Sci 2009;66:1178-1197.
[18] Harkness ML, Harkness RD, Mcdonald DA. The collagen and elastin content of the arterial wall in the dog. Proc R Soc Lond B Biol Sci 1957;146:541-551.
[19] Karnik SK, Brooke BS, Bayes-Genis A, Sorensen L, Wythe JD, Schwartz RS, et al. A critical role for elastin signaling in vascular morphogenesis and disease. Development 2003;130:411-423.
[20] Jiao Y, Li G, Korneva A, Caulk AW, Qin L, Bersi MR, et al. Deficient Circumferential Growth Is the Primary Determinant of Aortic Obstruction Attributable to Partial Elastin Deficiency. Arterioscler Thromb Vasc Biol 2017;37:930-941.
[21] Parrish PCR, Liu D, Knutsen RH, Billington CJ, Mecham RP, Fu YP, et al. Whole exome sequencing in patients with Williams-Beuren syndrome followed by disease modeling in mice points to four novel pathways that may modify stenosis risk. Hum Mol Genet 2020;29:2035-2050.
[22] Kozel BA, Barak B, Kim CA, Mervis CB, Osborne LR, Porter M, et al. Williams syndrome. Nat Rev Dis Primers 2021;7:42.
[23] Vaux KK, Wojtczak H, Benirschke K, Jones KL. Vocal cord abnormalities in Williams syndrome: a further manifestation of elastin deficiency. Am J Med Genet A 2003;119A:302-304.
[24] Kozel BA, Bayliss SJ, Berk DR, Waxler JL, Knutsen RH, Danback JR, et al. Skin findings in Williams syndrome. Am J Med Genet A 2014;164A :2217-2225.
[25] Drummond GR, Selemidis S, Griendling KK, Sobey CG. Combating oxidative stress in vascular disease: NADPH oxidases as therapeutic targets. Nat Rev Drug Discov 2011;10:453-471.
[26] Jabbi M, Chen Q, Turner N, Kohn P, White M, Kippenhan J S, et al. Variation in the Williams syndrome GTF2I gene and anxiety proneness interactively affect prefrontal cortical response to aversive stimuli. Transl Psychiatry 2015;5:e622.
[27] Antonell A, Del Campo M, Magano LF, Kaufmann L, de la Iglesia JM, Gallastegui F, et al. Partial 7q11.23 deletions further implicate GTF2I and GTF2IRD1 as the main genes responsible for the Williams-Beuren syndrome neurocognitive profile. J Med Genet 2010;47:312-320.
[28] Nagy N, Goldstein AM. Enteric nervous system development: A crest cell's journey from neural tube to colon. Semin Cell Dev Biol 2017; 66:94-106.
doi: S1084-9521(17)30008-3 pmid: 28087321
[29] Gregory MD, Mervis CB, Elliott ML, Kippenhan JS, Nash T, B Czarapata J, et al. Williams syndrome hemideletion and LIMK1 variation both affect dorsal stream functional connectivity. Brain 2019;142:3963-3974
[30] Durdiaková J, Warrier V, Banerjee-Basu S, Baron-Cohen S, Chakrabarti B. STX1A and Asperger syndrome: a replication study. Mol Autism 2014;5:14.
[31] Kontos H, Manolakos E, Malligiannis P, Plachouras N, Ploumis N, Mihalatos M, et al. Prenatal diagnosis of a fetus with 7q11.23 deletion detected by multiplex ligation-dependent probe amplification (MLPA) screening. Prenat Diagn 2008;28:556-558
[32] von Dadelszen P, Chitayat D, Winsor EJ, Cohen H, MacDonald C, Taylor G, et al. De novo 46, XX, t (6;7) (q 27; q 1;23) associated with severe cardiovascular manifestations characteristic of supravalvular aortic stenosis and Williams syndrome. Am J Med Genet 2000;90:270-275.
[33] Krzeminska D, Steinfeld C, Cloez JL, Vibert M, Chery M, Menzies D, et al. Prenatal diagnosis of Williams syndrome based on ultrasound signs. Prenat Diagn 2009;29:710-712.
[34] Popowski T, Vialard F, Leroy B, Bault JP, Molina-Gomes D. Williams-Beuren syndrome: the prenatal phenotype. Am J Obstet Gynecol 2011;205:e6-e8.
[35] Marcato L, Turolla L, Pompilii E, Dupont C, Gruchy N, De Toffol S, et al. Prenatal phenotype of Williams-Beuren syndrome and of the reciprocal duplication syndrome. Clin Case Rep 2014;2:25-32.
[36] Chen FF, Lei TY, Fu F, Li R, Zhang YN, Jing XY, et al. Chromosome microarray analysis of fetuses with multicystic dysplastic kidney. Chinese Journal of Medical Genetics 2016;33:75.
[37] Kobalka AJ, Mrak RE, Gunning WT. A Case Report of in Utero Williams Syndrome Arterial Malformation. Fetal Pediatr Pathol 2017;36:452-456.
[38] Srinivasan S, Howley LW, Cuneo BF, Chatfield KC. In-utero idiopathic ductal constriction: a prenatal manifestation of Alagille and Williams syndrome arteriopathy. J Perinatol 2018;38:1453-1456.
[39] Li C, Chen B, Zheng J, Cheng L, Song T, Guo F, et al. Prenatal diagnosis of BACs-on-beads assay in 3647 cases of amniotic fluid cells. Reprod Sci 2019;26:1005-1012.
[40] Liu N, Wei ZL, Yang J, Guo Y, Wang L, Feng Y, et al. Two cases of Williams-Beuren syndrome fetal prenatal diagnosis and literature review. Chinese Journal of Obstetrics and Gynecology 2019;54:114-116.
[41] Dang Y, Wan S, Zheng Y, Song T, Li C, Li Y, et al. The prenatal diagnosis of seven fetuses with 7q11.23 microdeletion or microduplication. Fetal Pediatr Pathol 2020;39:269-276.
[42] Yuan M, Deng L, Yang Y, Sun L. Intrauterine phenotype features of fetuses with Williams-Beuren syndrome and literature review. Ann Hum Genet 2020;84:169-176.
[43] Ji YZ, Xu YS. Application of CNV-Seq technology in prenatal diagnosis of fetal Williams- Beuren syndrome. International Journal of Medicine and Health 2021;27:3562-3564.
[44] Zhou WN, Huang HJ, Lu J, Huang YL, Hu R, Huang WW, et al. Clinical Characteristic Analysis of Williams-Beuren Syndrome Diagnosed with CMA Technology. Chinese Journal of Eugenics and Genetics 2021;29:12-16.
[45] Huang R, Zhou H, Fu F, Li R, Lei T, Li Y, et al. Prenatal diagnosis of Williams-Beuren syndrome by ultrasound and chromosomal microarray analysis. Mol Cytogenet 2022;15:27.
[46] Zhai HB, Lu HY, Huai L, Zhu HQ, Wu YF, Lu JY, et al. Report and literature review of two cases of fetal growth restriction in mid-pregnancy with prenatal diagnosis of Williams-Beuren syndrome. Chinese Journal of Practical Gynecology and Obstetrics 2022;38:1150-1152
[47] Chen F, Yuan TT, Chen M, Xie YL, Li N, Jian W, et al. Genetic testing and pregnancy outcome analysis of fetuses with multicystic kidney dysplasia. Journal of Practical Obstetrics and Gynecology 2022;38:616-620.
[48] Wang Y, Liu C, Hu R, Geng J, Lu J, Zhao X, et al. Prenatal phenotype features and genetic etiology of the Williams-Beuren syndrome and literature review. Front Pediatr 2023;11:114-1665.
[49] Luo L, He Y. A case of Williams-Beuren syndrome diagnosed by prenatal and postnatal echocardiography. Chinese Journal of Ultrasound Medicine 2023;39:41.
[50] Huang YX, Zheng HY, Lu XC, Huang HF. Clinical value of fetal ultrasound soft indicators and structural abnormalities in prenatal diagnosis of fetal chromosomal abnormalities. Journal of Clinical Military Medicine 2023;51:864-867.
[51] Wang HR, Li YFH, Xia Y, Zhao Y, Ye CL, Tan F, et al. A study on the correlation between fetal ultrasound soft indicators and advanced pregnancy with chromosomal abnormalities. Chinese Journal of Ultrasound Medicine 2022;38:73-76.
[52] Chen X, Zhao ZF, Tang L, Hu LY. Imaging diagnosis of congenital aortic valve, supravalvular and subvalvular stenosis. Chinese Journal of Medical Imaging 2003:84-85
[53] Zhu H, Lin S, Huang L, He Z, Huang X, Zhou Y, et al. Application of chromosomal microarray analysis in prenatal diagnosis of fetal growth restriction. Prenat Diagn 2016;36:686-692.
[54] Borrell A, Grande M, Meler E, Sabrià J, Mazarico E, Muñoz A, et al. Genomic Microarray in Fetuses with Early Growth Restriction: A Multicenter Study. Fetal Diagn Ther 2017;42:174-180.
[55] Xi Q. Application of chromosome microarray analysis in prenatal genetic diagnosis of fetal polycystic renal dysplasia. Nanjing University 2016
[56] Liu Y, Xu ZY, Wu WQ, Luo FW, Xie JS. Genetic diagnosis and prenatal diagnosis of 4 families with Williams-Beuren syndrome. Chinese Journal of Contemporary Pediatrics 2015;17:1267-1272.
No related articles found!
Viewed
Full text


Abstract

Cited
  Shared   
  Discussed   
No Suggested Reading articles found!
[an error occurred while processing this directive]