Genetic analysis of a mosaic case with low proportion mutation of
10.3785/j.issn.1008-9292.2020.10.06
- Author:
Xiaoxiao JIN
1
;
Pengzhen JIN
1
;
Kai YAN
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:
Diagnosis;
Droplet digital PCR;
Mosaicism;
Sanger sequencing;
TSC2;
Tuberous sclerosis;
Whole exome sequencing
- MeSH:
Female;
Humans;
Male;
Mosaicism;
Mutation;
Tuberous Sclerosis/genetics*;
Tuberous Sclerosis Complex 2 Protein/genetics*;
Whole Exome Sequencing
- From:
Journal of Zhejiang University. Medical sciences
2020;49(5):586-590
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To perform gene mutation analysis in a patient with atypical clinical manifestations of tuberous sclerosis (TSC) for definite diagnosis.
METHODS:Peripheral blood DNA was obtained from a patient with clinically suspected TSC and her parents, and all exons and their flanking sequences of
RESULTS:A heterozygous nonsense mutation c.1096G>T (p.E366*) was identified in the exon 11 of the
CONCLUSIONS:The somatic mosaic mutation c.1096G>T (p.e366*) may be responsible for the phenotype of TSC in this patient. And the drop digital PCR is expected to be a diagnostic method for somatic cells mosaicism.
