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Tytuł:
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[Genetic analysis of a case with ectodermal dysplasia using whole exome sequencing].
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Autorzy:
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Xia J; Prenatal and Genetic Diagnosis Center, the Department of Obstetrics and Gynecology, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450002, China. .
Shi P
Chen C
Tang Q
Kong X
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Źródło:
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Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics [Zhonghua Yi Xue Yi Chuan Xue Za Zhi] 2020 Nov 10; Vol. 37 (11), pp. 1265-1268.
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Typ publikacji:
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Journal Article
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Język:
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Chinese
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Imprint Name(s):
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Publication: <2004->: Chengdu, Sichuan, P.R. China : Sichuan University
Original Publication: Chengdu : Hua xi yi ke da xue,
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MeSH Terms:
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DNA Copy Number Variations*
Ectodermal Dysplasia*/genetics
Exome Sequencing*
Ectodysplasins/genetics ; Exons ; Genetic Testing ; High-Throughput Nucleotide Sequencing ; Humans ; Mosaicism ; Sequence Deletion
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Substance Nomenclature:
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0 (EDA protein, human)
0 (Ectodysplasins)
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Entry Date(s):
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Date Created: 20201112 Date Completed: 20201119 Latest Revision: 20221207
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Update Code:
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20240105
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DOI:
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10.3760/cma.j.cn511374-20190726-00376
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PMID:
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33179236
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Objective: To explore the genetic cause of a patient suspected for congenital ectodermal dysplasia with repeated hyperthermia and to assess the reproductive risk for his family.
Methods: Medical whole-exome sequencing (WES) were used to detect single-nucleotide variations and low-coverage massively parallel copy number variation sequencing (CNV-seq) were employed to verify suspected CNVs. PCR and real-time quantitative PCR were applied to confirm the deletion of EDA gene.
Results: The results of WES suggested that the patient carried a hemizygous deletion for chrX:69 243 016-69 395 730. CNV-seq indicated that the patient carried a deletion of approximately 0.12 Mb on Xq13.1, which encompassed the EDA gene. The PCR results confirmed that there was a hemizygous deletion of exons 3 to 8 of the EDA gene. The same deletion was not found in his mother.
Conclusion: The congenital ectodermal dysplasia of the patient may be attributed to deletion of exons 3 to 8 of the EDA gene, which could be de novo or derive from germline mosaicism of his mother. The WES and CNV-seq are of great value for the diagnosis of rare diseases.
