[Variant analysis of CCBE1 gene in a case of Hennekam lymphangiectasia-lymphedema syndrome type 1].
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.
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