Genetic analysis and clinical phenotype of a family with lymphedema-distichiasis syndrome.
10.3785/j.issn.1008-9292.2020.10.05
- Author:
Gang HU
1
;
Bei LIU
1
;
Min CHEN
1
;
Yeqing QIAN
1
;
Minyue DONG
1
Author Information
1. Department of Reproductive Genetics, Women's Hospital, Zhejiang University School of Medicine, Key Laboratory of Reproductive Genetics, Ministry of Education, Hangzhou 310006, China.
- Publication Type:Journal Article
- Keywords:
Autosomal dominant;
Genetic diseases, inborn;
Hydrops fetalis;
Lymphedema-distichiasis syndrome;
Nuchal translucency;
Whole exome sequencing
- MeSH:
Aborted Fetus/physiopathology*;
Adult;
Eyelashes/pathology*;
Female;
Forkhead Transcription Factors/genetics*;
Frameshift Mutation;
Humans;
Lymphedema/pathology*;
Male;
Phenotype;
Pregnancy;
Whole Exome Sequencing
- From:
Journal of Zhejiang University. Medical sciences
2020;49(5):581-585
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To identify the genetic causes of a family with lymphedema-distichiasis syndrome (LDS).
METHODS:The whole exome sequencing was performed in a aborted fetus as the proband, and a candidate gene was identified. Peripheral blood of 8 family members were collected. Genotypic-phenotypic analysis were carried out through PCR amplification and Sanger sequencing.
RESULTS:The proband, and the mother, grandmother, uncle, granduncle of the proband all had distichiasis or varix of lower limb carried a
CONCLUSIONS:The
