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[Variant analysis of CCBE1 gene in a case of Hennekam lymphangiectasia-lymphedema syndrome type 1].
Ren, Ying; Liu, Yi; Lyu, Yuqiang; Gao, Min; Wang, Dong; Wan, Ya; Ma, Jian; Shen, Nan; Gai, Zhongtao.
Affiliation
  • Ren Y; Cheeloo College of Medicine, Shandong University, Jinan, Shandong 250012, China. gaizhongtao@sina.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 37(6): 669-672, 2020 Jun 10.
Article in Zh | MEDLINE | ID: mdl-32472549
ABSTRACT

OBJECTIVE:

To explore the genetic etiology of a child with lymphangiectasia and lymphedema.

METHODS:

DNA sample of the patient was extracted and subjected to whole exome sequencing. Suspected variants were verified by Sanger sequencing.

RESULTS:

The patient was found to carry compound heterozygote variants (c.521G>A and c.472C>T) of the CCBE1 gene, which were respectively inherited from his parents.

CONCLUSION:

The compound heterozygote variants of the CCBE1 gene probably underlie the disease in this child.
Subject(s)
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Craniofacial Abnormalities / Lymphangiectasis, Intestinal / Lymphedema Limits: Child / Humans Language: Zh Journal: Zhonghua Yi Xue Yi Chuan Xue Za Zhi Journal subject: GENETICA MEDICA Year: 2020 Document type: Article Affiliation country: China Publication country: CHINA / CN / REPUBLIC OF CHINA
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Craniofacial Abnormalities / Lymphangiectasis, Intestinal / Lymphedema Limits: Child / Humans Language: Zh Journal: Zhonghua Yi Xue Yi Chuan Xue Za Zhi Journal subject: GENETICA MEDICA Year: 2020 Document type: Article Affiliation country: China Publication country: CHINA / CN / REPUBLIC OF CHINA