Genetic analysis of a mosaic case with low proportion mutation of / 浙江大学学报·医学版
Journal of Zhejiang University. Medical sciences
;
(6): 586-590, 2020.
Article
in Chinese
| WPRIM
| ID: wpr-879916
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Tuberous Sclerosis
/
Exome Sequencing
/
Tuberous Sclerosis Complex 2 Protein
/
Mosaicism
/
Mutation
Limits:
Female
/
Humans
/
Male
Language:
Chinese
Journal:
Journal of Zhejiang University. Medical sciences
Year:
2020
Type:
Article
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