Diagnosis of a fetus with X-linked hydrocephalus due to mutation of L1CAM gene / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 897-900, 2019.
Article
in Chinese
| WPRIM
| ID: wpr-776780
ABSTRACT
OBJECTIVE@#To explore the genetic basis for a case of recurrent fetal congenital hydrocephalus.@*METHODS@#Next-generation sequencing was carried out for the fetus, the gravida and two of her sisters.@*RESULTS@#The fetus was found to harbor a c.1765T>C (p.Tyr589His) mutation in exon 14 of the L1CAM gene, which was derived from the gravida.@*CONCLUSION@#Male fetuses with recurrent hydrocephalus should be subjected to testing of the L1CAM gene to facilitate genetic counseling and prenatal diagnosis.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Pedigree
/
DNA Mutational Analysis
/
Genetic Diseases, X-Linked
/
Neural Cell Adhesion Molecule L1
/
Diagnosis
/
Fetus
/
Genetics
/
Hydrocephalus
/
Mutation
Type of study:
Diagnostic study
Limits:
Female
/
Humans
/
Male
/
Pregnancy
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2019
Type:
Article
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