Genetic analysis and prenatal diagnosis of a fetus with harlequin ichthyosis / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 1195-1198, 2019.
Article
in Chinese
| WPRIM
| ID: wpr-781318
ABSTRACT
OBJECTIVE@#To carry out variant analysis for a fetus suspected with harlequin ichthyosis (HI).@*METHODS@#Whole exome sequencing (WES) was employed to detect potential variant in the fetus. Suspected variant was validated by Sanger sequencing.@*RESULTS@#A homozygous missense variant c.6858delT (p.F2286fs) was detected in the fetus, for which both parents were heterozygous carriers. Pathological analysis confirmed the diagnosis of HI.@*CONCLUSION@#The c.6858delT variant of the ABCA12 gene probably underlies the disease in the fetus.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Prenatal Diagnosis
/
Genetic Testing
/
Ichthyosis, Lamellar
/
ATP-Binding Cassette Transporters
/
Fetus
/
Genetics
/
Heterozygote
Type of study:
Diagnostic study
Limits:
Female
/
Humans
/
Pregnancy
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2019
Type:
Article
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