Diagnosis of one case of Williams-Beuren syndrome presenting with hypothyroidism by low-coverage massively parallel CNV sequencing
10.3760/cma.j.issn.1000-6699.2020.01.004
- VernacularTitle: 低深度全基因组测序检测以甲状腺功能减退起病的Williams-Beuren综合征一例
- Author:
Youbo YANG
1
;
Wenmu HU
;
Zhaohui MO
;
Hongmei DAI
;
Qin ZHANG
;
Ping JIN
Author Information
1. Department of Endocrinology, Third Xiangya Hospital, Centre South University, Changsha 410013, China
- Publication Type:Journal Article
- Keywords:
Hypothyroidism;
Low-coverage massively parallel copy number variation sequencing;
Williams-Beuren syndrome;
Copy number variations
- From:
Chinese Journal of Endocrinology and Metabolism
2020;36(1):31-35
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To explore the clinical phenotypes and the genetic causes for a 5 years old boy with unexplained growth retardation, developmental delay, special face, and hypothyroidism.
Methods:Routine G-banding was performed to analyze the karyotype of the patient and his parents. In addition, whole exome sequencing and low-coverage massively parallel CNV sequencing (CNV-seq) were used to determine the potentially pathogenic variants as well as the copy number variations (CNVs).
Results:The child′s karyotype was 46, XY, and his parents′ karyotypes were normal.However, CNV-seq identified a heterozygous deletion of 1.56 Mb on chromosome region 7q11.23 in the patient, including 24 protein-coding genes, which were associated with Williams-Beuren syndrome. His parents′ results of CNV-seq were normal, indicating a de novo CNVs.
Conclusion:A Williams-Beuren syndrome child presenting with hypothyroidism was diagnosed by CNV-seq, which would contribute to further understanding the clinical phenotypes and pathogenesis of this disease.
