Clinical and Genetic Characteristics of Two Cases with Williams-Beuren Syndrome

Overview

Journal Transl Pediatr

Publisher AME Publishing Company

Specialty Pediatrics

Date 2021 Jul 23

PMID 34295790

Citations 1

Authors

Liu-Xu Wang

Jie Leng

Zhong-Hui Li

Li Yan

Peng Gou

Fang Tang

Na Su

Chun-Zhu Gong

Xin-Ran Cheng

Affiliations

Soon will be listed here.

Abstract

Herein, we describe 2 cases of Williams-Beuren syndrome (WBS). In both cases, the patients exhibited mental retardation, characteristic facial features, and indirect inguinal hernia. Case 1, a girl aged 2 years and 5 months old, presented with hypercalcemia, and in case 2, a boy aged 4 years and 11 months old, the disorder manifested as infantile spasms, supravalvular aortic stenosis, and pulmonary stenosis. Brain MRI revealed no abnormalities in either case. The electroencephalogram of case 2 showed hypsarrhythmia. Case 1 was treated with bisphosphonates and somatropin for hypercalcemia and short stature. Case 2 received antiepileptic drug and ketogenic diet therapy. In both cases, a 7q11.23 deletion including fragment deletion of the gene was found, which may be associated with mental retardation. Notably, in case 2, a 921.1kb deletion in Yq11.23 was detected, which has not been reported in WBS before. The deletion of Yq11.23 is located in the AZFc region, which is an important factor in male infertility with primary azoospermia and oligozoospermia. The occurrence of hypercalcemia in case 1 may be related to the deletion of , while the supravalvular aortic stenosis and pulmonary stenosis were associated with deletion of the gene. We explored the clinical and genetic characteristics of WBS to better understand disease.

Citing Articles

WBSCR22 and TRMT112 synergistically suppress cell proliferation, invasion and tumorigenesis in pancreatic cancer via transcriptional regulation of ISG15.

Khan A, Huang H, Zhao Y, Li H, Pan R, Wang S Int J Oncol. 2022; 60(3).

PMID: 35088887 PMC: 8857931. DOI: 10.3892/ijo.2022.5314.

References

Palacios-Verdu M, Segura-Puimedon M, Borralleras C, Flores R, Del Campo M, Campuzano V . Metabolic abnormalities in Williams-Beuren syndrome. J Med Genet. 2015; 52(4):248-55. DOI: 10.1136/jmedgenet-2014-102713. View

Crespi B, Hurd P . Cognitive-behavioral phenotypes of Williams syndrome are associated with genetic variation in the GTF2I gene, in a healthy population. BMC Neurosci. 2014; 15:127. PMC: 4247780. DOI: 10.1186/s12868-014-0127-1. View

Ramocki M, Bartnik M, Szafranski P, Kolodziejska K, Xia Z, Bravo J . 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(6):857-65. PMC: 2997378. DOI: 10.1016/j.ajhg.2010.10.019. View

Kim Y, Cho J, Kang E, Kim G, Seo E, Lee B . Endocrine dysfunctions in children with Williams-Beuren syndrome. Ann Pediatr Endocrinol Metab. 2016; 21(1):15-20. PMC: 4835556. DOI: 10.6065/apem.2016.21.1.15. View

Tsui S, Dai T, Roettger S, Schempp W, Salido E, Yen P . Identification of two novel proteins that interact with germ-cell-specific RNA-binding proteins DAZ and DAZL1. Genomics. 2000; 65(3):266-73. DOI: 10.1006/geno.2000.6169. View

BEUREN A, Schulze C, Eberle P, HARMJANZ D, APITZ J . THE SYNDROME OF SUPRAVALVULAR AORTIC STENOSIS, PERIPHERAL PULMONARY STENOSIS, MENTAL RETARDATION AND SIMILAR FACIAL APPEARANCE. Am J Cardiol. 1964; 13:471-83. DOI: 10.1016/0002-9149(64)90154-7. View

Vogt P . Human chromosome deletions in Yq11, AZF candidate genes and male infertility: history and update. Mol Hum Reprod. 1998; 4(8):739-44. DOI: 10.1093/molehr/4.8.739. View

Collins 2nd R . Cardiovascular disease in Williams syndrome. Circulation. 2013; 127(21):2125-34. DOI: 10.1161/CIRCULATIONAHA.112.000064. View

Merla G, Ucla C, Guipponi M, Reymond A . Identification of additional transcripts in the Williams-Beuren syndrome critical region. Hum Genet. 2002; 110(5):429-38. DOI: 10.1007/s00439-002-0710-x. View

10.

Ji C, Yao D, Chen W, Li M, Zhao Z . Adaptive behavior in Chinese children with Williams syndrome. BMC Pediatr. 2014; 14:90. PMC: 3994205. DOI: 10.1186/1471-2431-14-90. View

11.

Pober B . Williams-Beuren syndrome. N Engl J Med. 2010; 362(3):239-52. DOI: 10.1056/NEJMra0903074. View

12.

Merla G, Brunetti-Pierri N, Piccolo P, Micale L, Loviglio M . Supravalvular aortic stenosis: elastin arteriopathy. Circ Cardiovasc Genet. 2012; 5(6):692-6. DOI: 10.1161/CIRCGENETICS.112.962860. View

13.

Foresta C, Garolla A, Bartoloni L, Bettella A, Ferlin A . Genetic abnormalities among severely oligospermic men who are candidates for intracytoplasmic sperm injection. J Clin Endocrinol Metab. 2004; 90(1):152-6. DOI: 10.1210/jc.2004-1469. View

14.

Nicita F, Garone G, Spalice A, Savasta S, Striano P, Pantaleoni C . Epilepsy is a possible feature in Williams-Beuren syndrome patients harboring typical deletions of the 7q11.23 critical region. Am J Med Genet A. 2015; 170A(1):148-55. DOI: 10.1002/ajmg.a.37410. View

15.

Del Campo M, Antonell A, Magano L, Munoz F, Flores R, Bayes M . Hemizygosity at the NCF1 gene in patients with Williams-Beuren syndrome decreases their risk of hypertension. Am J Hum Genet. 2006; 78(4):533-42. PMC: 1424678. DOI: 10.1086/501073. View

16.

Perez Jurado A . Williams-Beuren syndrome: a model of recurrent genomic mutation. Horm Res. 2003; 59 Suppl 1:106-13. DOI: 10.1159/000067836. View

17.

Fusco C, Micale L, Augello B, Pellico M, Menghini D, Alfieri P . Smaller and larger deletions of the Williams Beuren syndrome region implicate genes involved in mild facial phenotype, epilepsy and autistic traits. Eur J Hum Genet. 2013; 22(1):64-70. PMC: 3865388. DOI: 10.1038/ejhg.2013.101. View

18.

Samanta D . Infantile spasms in Williams-Beuren syndrome with typical deletions of the 7q11.23 critical region and a review of the literature. Acta Neurol Belg. 2016; 117(1):359-362. DOI: 10.1007/s13760-016-0635-0. View